Dra. Ana Pereira Scalabrino

@article{nokey,

title = {Association between High DHEAS in 7-Year-old Girls and Metabolic Features 4 Years after Menarche},

author = {Ana Pereira },

year  = {2026},

date = {2026-01-14},

journal = {J. Endocr. Soc.},

abstract = {- Otros autores: Pereira A, Cutler G, Iñiguez G, Mericq V.



- Cómo citar: Pereira A, Cutler G, Iñiguez G, Mericq V. Association between High DHEAS in 7-Year-old Girls and Metabolic Features 4 Years after Menarche. J. Endocr. Soc. 2026; doi: 10.1210/jendso/bvaf211 ISSN: 2472-1972. IF [JCR]: 3.1. Q2



- Resumen: Premature adrenarche (PA) is linked to increased adiposity, enhanced adrenal 11-oxygenated C19 androgen production, and adverse metabolic profiles in childhood. However, it remains unclear whether early elevations in DHEAS predict metabolic dysfunction in adolescence or young adulthood.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Consumption of ultra-processed foods and breast density in adolescence},

author = {María Luisa Garmendia and Ana Pereira},

doi = { 10.1038/s41598-025-23030-x},

year  = {2025},

date = {2025-11-10},

journal = {Sci Rep.},

abstract = {- Otros autores: Devoto A, Jacard M. 



- Cómo citar:  Alberti, G., Cantillo, T., Pereira, A., De Barbieri, F., García, C., Villarroel, L., & Gana, J. C. (2024). Prevalence of Fatty Pancreas and its relation with anthropometric values on the Growth and Obesity Cohort Study. Jornal de pediatria, S0021-7557(24)00145-1. Advance online publication. https://doi.org/10.1016/j.jped.2024.09.007



- Resumen: Breast density (BD) is one of the major risk factors for breast cancer (BC) and has the potential to be used as an early marker. Puberty is a critical period for carcinogenesis, and identifying events that modify BD during this stage could aid in understanding future BC risk. The consumption of ultra-processed foods (UPFs) has been associated with BC; however, evidence of their effect on BD, particularly in adolescents, is lacking. To assess the association between the intake of UPFs during the peripubertal period and BD measured at 4 years after menarche onset, absolute fibroglandular volume (AFGV) and the percentage of fibroglandular volume (%FGV) were used. The Growth and Obesity Cohort Study is a longitudinal study of 550 girls recruited in 2006 at daycare centers in the southeastern area of Santiago, Chile.

},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {High dietary total energy intake and energy density are associated with girl's breast density during puberty},

author = {María Luisa Garmendia and Ángela Martínez and Ana Pereira },

doi = {10.1007/s00394-025-03755-1},

year  = {2025},

date = {2025-07-22},

journal = {Eur. J. Nutr.},

abstract = {- Otros autores: Carrasco C, Garmendia ML, Martínez-Arroyo A, Shepherd J, Pereira A.



- Cómo citar: Carrasco C, Garmendia ML, Martínez-Arroyo A, Shepherd J, Pereira A. High dietary total energy intake and energy density are associated with girl's breast density during puberty Eur. J. Nutr. 2025;64, 245 (2025) doi: 10.1007/s00394-025-03755-1 PMID: 40694138 ISSN: 1436-6207. IF [JCR]: 4.3. Q1



- Resumen: Breast density (BD) is an important risk factor for breast cancer (BC). Excessive caloric intake in adulthood is associated with an increased risk of BC and BD in adults. We aim to assess whether high total energy intake and energy density in the diet during puberty is associated with breast composition (% fibroglandular volume (%FGV) and absolute fibroglandular volume (AFGV) in girls two years after menarche onset independently of body size.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Circulating Bilirubin Levels, but Not Their Genetic Determinants, Are Inversely Associated with Steatotic Liver Disease in Adolescents},

author = {Ana Pereira },

doi = {10.3390/ijms26072980},

year  = {2025},

date = {2025-03-24},

urldate = {2025-03-24},

journal = {Int. J. Mol. Sci.},

abstract = {- Otros autores: Miranda JP, Gana JC, Alberti G, Galindo K, Pereira A, Santos JL.



- Cómo citar: Miranda JP, Gana JC, Alberti G, Galindo K, Pereira A, Santos JL. Circulating Bilirubin Levels, but Not Their Genetic Determinants, Are Inversely Associated with Steatotic Liver Disease in Adolescents. Int. J. Mol. Sci. 2025;26(7),2980. doi: 10.3390/ijms26072980. PMID: 40243597. ISSN: 1107-3756. IF [JCR]: 4.9. Q1



- Resumen: Epidemiologic studies suggest that elevated plasma unconjugated bilirubin confer protection against steatotic liver disease (SLD) in adults. However, evidence supporting this protective role in adolescents remains limited. We aimed to assess the association between serum bilirubin levels and their genetic determinants in protecting against SLD in Chilean adolescents. We conducted a cross-sectional study with 704 adolescents aged 15.4 ± 1 years (52% girls) of the Chilean Growth and Obesity Cohort Study. Ultrasonography echogenicity was used to diagnose SLD. We measured Z-scores of body mass index (z-BMI), total bilirubin (TB), and the genetic determinants of bilirubin (including rs887829 genotypes of UGT1A1 and bilirubin polygenic scores). Multiple logistic regression models evaluated the associations between standardized TB and its genetic determinants with SLD. We found that 1-SD of standardized plasma TB was significantly associated with a 30% reduction in the likelihood of SLD after adjustment by sex, age, z-BMI, and ethnicity (OR = 0.7; 95% CI = 0.50–0.96; p = 0.03). No significant associations were found among the rs887829 genotypes, bilirubin polygenic scores, and SLD in logistic regression models adjusted by covariates. Increased circulating bilirubin levels are unlikely causally associated with protection against SLD, and the cross-sectional association could be due to unmeasured confounding.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Early childhood adiposity, lifestyle and gut microbiome are linked to steatotic liver disease development in adolescents},

author = {Ana Pereira },

doi = {10.1038/s41366-025-01737-1},

year  = {2025},

date = {2025-03-12},

journal = {Int. J. Obes.},

abstract = {- Otros autores: Cai C, Zhang Z, Alberti G, De Barbieri F, García C, Wine E, Gana JC.



- Cómo citar: Cai C, Zhang Z, Alberti G, Pereira A, De Barbieri F, García C, Wine E, Gana JC. Early childhood adiposity, lifestyle and gut microbiome are linked to steatotic liver disease development in adolescents. Int. J. Obes. 2025;49(6):1056-1065 doi: 10.1038/s41366-025-01737-1. PMID: 40075127. ISSN: 0307-0565. IF [JCR]: 3.8. Q1



- Resumen: To examine the relationship between early childhood adiposity, adolescent lifestyles, gut microbiota and steatotic liver disease (SLD) development in adolescents using data from a prospective, longitudinal cohort study.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Prolactin and Adrenal Androgens during Adrenarche},

author = {Ana Pereira and Pedro Ferrer },

doi = {10.1111/cen.15227},

year  = {2025},

date = {2025-03-06},

journal = {Clin. Endocrinol.},

abstract = {- Otros autores: Iñiguez G, BarnafiE, Lalli E, Mericq V.



- Cómo citar: Iñiguez G, BarnafiE, Lalli E, Pereira A, Ferrer P, Mericq V. Prolactin and Adrenal Androgens during Adrenarche. Clin. Endocrinol. 2025;Online ahead of print. doi: 10.1111/cen.15227. PMID: 40047305. ISSN: 0300-0664. IF [JCR]: 2.4. Q2



- Resumen: Premature adrenarche (PremA), is associated with increased adiposity and in girls to earlier puberty and adverse metabolic profiles. Recently LC-MS/MS studies demonstrated adrenal production of more potent androgens: 11-oxygenated C19 steroids. Defining the mechanisms that regulate adrenal 11-oxygenated C19 steroids production has been elusive. We recently showed that genetic determinants of DHEAS during adrenarche differed from those during adulthood. One highly significant variant was at the prolactin receptor which is strongly expressed in human adrenal tissue. The aim of this study is to test whether an association exists between DHEAS/11-oxygenated C19 steroids and prolactin concentrations in pre-pubertal girls.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Urinary Estrogens in Girls Throughout Puberty as a Marker of Metabolic Risk and Their Relationship With Premature Adrenarche},

author = {Ana Pereira},

doi = {10.1111/cen.15215},

year  = {2025},

date = {2025-02-10},

journal = {Clin. Endocrinol.},

abstract = {- Otros autores: Zepeda D, Iñiguez G, Mericq V. 



- Cómo citar: Zepeda D, Pereira A, Iñiguez G, Mericq V. Urinary Estrogens in Girls Throughout Puberty as a Marker of Metabolic Risk and Their Relationship With Premature Adrenarche. Clin. Endocrinol. 2025; 102(6):656-663 doi: 10.1111/cen.15215. PMID: 39930933. ISSN: 0300-0664. IF [JCR]: 2.4. Q3



- Resumen: The relationship between biochemical premature adrenarche (PA) in girls and metabolic alterations during puberty it is well described. A part of these circulating androgens undergoes aromatization in peripheral tissues to estrogens. This raises the question whether the metabolic effects are due to the action of androgens or estrogens. Our aim was to assess whether levels of urinary estrogens are associated with metabolic risk at late stages of puberty in girls with and without PA.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Prevalence of fatty pancreas and its relation with anthropometric values on the growth and obesity Cohort study},

author = {Ana Pereira },

doi = { https://doi.org/10.1016/j.jped.2024.09.007},

year  = {2024},

date = {2024-12-23},

journal = { Jornal de pediatria},

abstract = {- Otros autores: Alberti, G., Cantillo, T., De Barbieri, F., García, C., Villarroel, L., & Gana, J. C. 



- Cómo citar:  Alberti, G., Cantillo, T., Pereira, A., De Barbieri, F., García, C., Villarroel, L., & Gana, J. C. (2024). Prevalence of Fatty Pancreas and its relation with anthropometric values on the Growth and Obesity Cohort Study. Jornal de pediatria, S0021-7557(24)00145-1. Advance online publication. https://doi.org/10.1016/j.jped.2024.09.007



- Resumen: Nonalcoholic Fatty Pancreas Disease (NAFPD) is characterized by excessive lipid accumulation within the pancreas in the absence of alcohol intake, potentially leading to pancreatic dysfunction and metabolic complications, including type 2 diabetes mellitus, acute and chronic pancreatitis, and pancreatic carcinoma. The authors aim to estimate the prevalence of NAFPD and its association with anthropometric parameters in a cohort of Chilean adolescents.

},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {A snapshot of cancer in Chile II: an update on research, strategies and analytical frameworks for equity, innovation and national development},

author = {Ana Pereira},

doi = {https://doi.org/10.1186/s40659-024-00574-2},

year  = {2024},

date = {2024-12-18},

journal = {Biological research},

abstract = {- Otros autores: Vacarezza, C., Araneda, J., Gonzalez, P., Arteaga, O., Marcelain, K., Castellon, E. A., Khoury, M., Müller, B., Lecaros, J. A., Salas, S. P., Riquelme, A., Corvalan, A. H., de la Jara, J. J., Ferreccio, C., Goic, C., Nervi, B., Roa, J. C., & Owen, G. I. 



- Cómo citar:  Vacarezza, C., Araneda, J., Gonzalez, P., Arteaga, O., Marcelain, K., Castellon, E. A., Periera, A., Khoury, M., Müller, B., Lecaros, J. A., Salas, S. P., Riquelme, A., Corvalan, A. H., de la Jara, J. J., Ferreccio, C., Goic, C., Nervi, B., Roa, J. C., & Owen, G. I. (2024). A snapshot of cancer in Chile II: an update on research, strategies and analytical frameworks for equity, innovation and national development. Biological research, 57(1), 95. https://doi.org/10.1186/s40659-024-00574-2



- Resumen: Chile has achieved developed nation status and boasts a life expectancy of 81 + years; however, the healthcare and research systems are unprepared for the social and economic burden of cancer. One decade ago, the authors put forward a comprehensive analysis of cancer infrastructure, together with a series of suggestions on research orientated political policy.



},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Differential Methylation of CYP11B1 in Girls with High DHEAS Levels and correlation with 11-Oxyandrogen levels: a pilot study},

author = {Ana Pereira },

doi = {https://doi.org/10.1159/000542963},

year  = {2024},

date = {2024-12-13},

journal = {Hormone research in paediatrics},

abstract = {- Otros autores: Rodríguez, F., Ponce, D., Miranda, J. P., Santos, J. L., Cutler, G. B., Jr, Barnafi, E., Iñiguez, G., & Mericq, V. 



- Cómo citar:  Rodríguez, F., Ponce, D., Miranda, J. P., Santos, J. L., Cutler, G. B., Jr, Pereira, A., Barnafi, E., Iñiguez, G., & Mericq, V. (2024). Differential Methylation of CYP11B1 in Girls with High DHEAS Levels and correlation with 11-Oxyandrogen levels: a pilot study. Hormone research in paediatrics, 1–17. Advance online publication. https://doi.org/10.1159/000542963



- Resumen: Premature adrenarche in girls is defined biochemically by an increase in adrenal androgen (DHEAS) levels above the age-specific reference range before age 8 years. Recently, increased levels of 11-oxyandrogens have also been reported in girls with premature adrenarche. Epigenetic modifications, specifically CpG methylation, may affect gene expression and/or activity of steroidogenic enzymes during developmental changes in adrenal androgen secretion.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Differential Methylation of CYP11B1 in Girls with High DHEAS Levels and correlation with 11-Oxyandrogen levels: a pilot study},

author = {Ana Pereira },

doi = {10.1159/000542963},

year  = {2024},

date = {2024-12-13},

journal = {Horm. Res. Paediatr.},

abstract = {- Otros autores: Rodríguez F, Ponce D, Miranda J, Santos J, Cutler G, Barnafi E, Iñiguez G, Mericq V. 



- Cómo citar: Rodríguez F, Ponce D, Miranda J, Santos J, Cutler G, Pereira A, Barnafi E, Iñiguez G, Mericq V. Differential Methylation of CYP11B1 in Girls with High DHEAS Levels and correlation with 11-Oxyandrogen levels: a pilot study. Horm. Res. Paediatr. 2024;13:1-17. doi: 10.1159/000542963. PMID: 39675347. ISSN: 1663-2818. IF [JCR]: 2.7. Q3



- Resumen: Premature adrenarche in girls is defined biochemically by an increase in adrenal androgen (DHEAS) levels above the age-specific reference range before age 8 years. Recently, increased levels of 11-oxyandrogens have also been reported in girls with premature adrenarche. Epigenetic modifications, specifically CpG methylation, may affect gene expression and/or activity of steroidogenic enzymes during developmental changes in adrenal androgen secretion.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Reproductive factors and mammographic density within the International Consortium of Mammographic Density: A cross-sectional study},

author = {Ana Pereira and María Luisa Garmendia },

doi = {doi: 10.1186/s13058-024-01890-x},

year  = {2024},

date = {2024-09-30},

journal = {Breast Cancer Res },

abstract = {- Otros autores: Jessica O’Driscoll, Anya Burton, Gertraud Maskarinec, Beatriz Perez-Gomez, Celine Vachon, Hui Miao, Martín Lajous, Ruy López-Ridaura, A. Heather Eliassen, Ana Pereira, Maria Luisa Garmendia, Rulla M. Tamimi, Kimberly Bertrand, Ava Kwong, Giske Ursin, Eunjung Lee, Samera A. Qureshi, Huiyan Ma, Sarah Vinnicombe, Sue Moss, Steve Allen, Rose Ndumia, Sudhir Vinayak, Soo-Hwang Teo, Shivaani Mariapun, Farhana Fadzli, Beata Peplonska, Chisato Nagata, Jennifer Stone, John L. Hopper, Graham Giles, Vahit Ozmen, Mustafa Erkin Aribal, Joachim Schüz, Carla H. Van Gils, Johanna O. P. Wanders, Reza Sirous, Mehri Sirous, John Hipwell, Jisun Kim, Jong Won Lee, Mikael Hartman, Jingmei Li, Christopher Scott, Anna M. Chiarelli, Linda Linton, Marina Pollan, Anath Arzee Flugelman, Dorria Salem, Rasha Kamal, Norman Boyd, Isabel dos-Santos-Silva, Valerie McCormack & Maeve Mullooly



- Cómo citar:  O’Driscoll, J., Burton, A., Maskarinec, G. et al. Reproductive factors and mammographic density within the International Consortium of Mammographic Density: A cross-sectional study. Breast Cancer Res 26, 139 (2024). https://doi.org/10.1186/s13058-024-01890-x



- Resumen: Elevated mammographic density (MD) for a woman’s age and body mass index (BMI) is an established breast cancer risk factor. The relationship of parity, age at first birth, and breastfeeding with MD is less clear. We examined the associations of these factors with MD within the International Consortium of Mammographic Density (ICMD).},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Joint models reveal genetic architecture of pubertal stage transitions and their association with BMI in admixed Chilean population},

author = {Ana Pereira },

doi = {https://doi.org/10.1093/hmg/ddae098},

year  = {2024},

date = {2024-09-19},

journal = {Human molecular genetics},

abstract = {- Otros autores: Vicuña, L., Barrientos, E., Leiva-Yamaguchi, V., Alvares, D., Mericq, V.



- Cómo citar:  Vicuña, L., Barrientos, E., Leiva-Yamaguchi, V., Alvares, D., Mericq, V., Pereira, A., & Eyheramendy, S. (2024). Joint models reveal genetic architecture of pubertal stage transitions and their association with BMI in admixed Chilean population. Human molecular genetics, 33(19), 1660–1670. https://doi.org/10.1093/hmg/ddae098



- Resumen: Early or late pubertal onset can lead to disease in adulthood, including cancer, obesity, type 2 diabetes, metabolic disorders, bone fractures, and psychopathologies. Thus, knowing the age at which puberty is attained is crucial as it can serve as a risk factor for future diseases. Pubertal development is divided into five stages of sexual maturation in boys and girls according to the standardized Tanner scale. We performed genome-wide association studies (GWAS) on the "Growth and Obesity Chilean Cohort Study" cohort composed of admixed children with mainly European and Native American ancestry. Using joint models that integrate time-to-event data with longitudinal trajectories of body mass index (BMI), we identified genetic variants associated with phenotypic transitions between pairs of Tanner stages. We identified $42$ novel significant associations, most of them in boys. The GWAS on Tanner $3rightarrow 4$ transition in boys captured an association peak around the growth-related genes LARS2 and LIMD1 genes, the former of which causes ovarian dysfunction when mutated. The associated variants are expression and splicing Quantitative Trait Loci regulating gene expression and alternative splicing in multiple tissues. Further, higher individual Native American genetic ancestry proportions predicted a significantly earlier puberty onset in boys but not in girls. Finally, the joint models identified a longitudinal BMI parameter significantly associated with several Tanner stages' transitions, confirming the association of BMI with pubertal timing.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Time-specific impact of trace metals on breast density of adolescent girls in Santiago, Chile},

author = {Ana Pereira and Camila Corvalán },

doi = {https://doi.org/10.1002/ijc.34930},

year  = {2024},

date = {2024-08-14},

urldate = {2024-08-14},

journal = {International journal of cancer, 155(4), 627–636.},

abstract = {- Otros autores: Claire E Kim, Alexandra M Binder, Chitra Amarasiriwardena, John A Shepherd, Karin B Michels.



- Cómo citar:  Kim, C. E., Pereira, A., Binder, A. M., Amarasiriwardena, C., Shepherd, J. A., Corvalan, C., & Michels, K. B. (2024). Time-specific impact of trace metals on breast density of adolescent girls in Santiago, Chile. International journal of cancer, 155(4), 627–636. https://doi.org/10.1002/ijc.34930



- Resumen: Whether trace metals modify breast density, the strongest predictor for breast cancer, during critical developmental stages such as puberty remains understudied. Our study prospectively evaluated the association between trace metals at Tanner breast stage B1 (n = 291) and at stages both B1 and B4 (n = 253) and breast density at 2 years post-menarche among Chilean girls from the Growth and Obesity Cohort Study. Dual-energy x-ray absorptiometry assessed the volume of dense breast tissue (absolute fibroglandular volume [FGV]) and percent breast density (%FGV). Urine trace metals included arsenic, barium, cadmium, cobalt, cesium, copper, magnesium, manganese, molybdenum, nickel, lead, antimony, selenium, tin, thallium, vanadium, and zinc. At B1, a doubling of thallium concentration resulted in 13.69 cm3 increase in absolute FGV (β: 13.69, 95% confidence interval [CI]: 2.81, 24.52), while a doubling of lead concentration resulted in a 7.76 cm3 decrease in absolute FGV (β: -7.76, 95%CI: -14.71, -0.73). At B4, a doubling of barium concentration was associated with a 10.06 cm3 increase (β: 10.06, 95% CI: 1.44, 18.60), copper concentration with a 12.29 cm3 increase (β: 12.29, 95% CI: 2.78, 21.56), lead concentration with a 9.86 cm3 increase (β: 9.86, 95% CI: 0.73, 18.98), antimony concentration with a 12.97 cm3 increase (β: 12.97, 95% CI: 1.98, 23.79) and vanadium concentration with a 13.14 cm3 increase in absolute FGV (β: 13.14, 95% CI: 2.73, 23.58). Trace metals may affect pubertal breast density at varying developmental stages with implications for increased susceptibility for breast cancer.

Keywords: breast cancer; breast density; puberty; trace metals.

},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Joint model shows association of Mapuche enetic ancesry and longitudinal BMI with early menarche},

author = {Ana Pereira },

doi = {10.64898/2025.12.04.692408},

year  = {2024},

date = {2024-06-24},

journal = {Human Molecular Genetics},

abstract = {- Otros autores: Vicuña L, Meza C, Alvares D, Mericq V, Eyheramendy S.



- Cómo citar: Vicuña L, Barrientos E, Leiva-Yamaguchi V, Alvares D, Mericq V, Pereira A, Eyheramendy S. Joint models reveal genetic architecture of pubertal stage transitions and their association with BMI in admixed Chilean population. Hum. Mol. Genet 2024;19;33(19):1660-1670. doi: 10.1093/hmg/ddae098 PMID: 38981621. ISSN: 0964-6906. IF [JCR]: 3.2. Q3



- Resumen: Early or late pubertal onset can lead to disease in adulthood, including cancer, obesity, type 2 diabetes, metabolic disorders, bone fractures, and psychopathologies. Thus, knowing the age at which puberty is attained is crucial as it can serve as a risk factor for future diseases. Pubertal development is divided into five stages of sexual maturation in boys and girls according to the standardized Tanner scale. We performed genome-wide association studies (GWAS) on the “Growth and Obesity Chilean Cohort Study” cohort composed of admixed children with mainly European and Native American ancestry. Using joint models that integrate time-to-event data with longitudinal trajectories of body mass index (BMI), we identified genetic variants associated with phenotypic transitions between pairs of Tanner stages. We identified 

 novel significant associations, most of them in boys. The GWAS on Tanner 

 transition in boys captured an association peak around the growth-related genes LARS2 and LIMD1 genes, the former of which causes ovarian dysfunction when mutated. The associated variants are expression and splicing Quantitative Trait Loci regulating gene expression and alternative splicing in multiple tissues. Further, higher individual Native American genetic ancestry proportions predicted a significantly earlier puberty onset in boys but not in girls. Finally, the joint models identified a longitudinal BMI parameter significantly associated with several Tanner stages’ transitions, confirming the association of BMI with pubertal timing.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Genetic determinants of serum bilirubin using inferred native American gene variants in Chilean adolescents},

author = {Ana Pereira and Camila Corvalán},

doi = {https://doi.org/10.3389/fgene.2024.1382103},

year  = {2024},

date = {2024-05-17},

journal = {Frontiers in genetics, 15, 1382103},

abstract = {- Otros autores: Miranda, J. P., Miquel, J. F., Alberti, G., Gana, J. C., & Santos, J. L.



- Cómo citar:  Miranda, J. P., Pereira, A., Corvalán, C., Miquel, J. F., Alberti, G., Gana, J. C., & Santos, J. L. (2024). Genetic determinants of serum bilirubin using inferred native American gene variants in Chilean adolescents. Frontiers in genetics, 15, 1382103. https://doi.org/10.3389/fgene.2024.1382103



- Resumen: Gene variants in the UGT1A1 gene are strongly associated with circulating bilirubin levels in several populations, as well as other variants of modest effect across the genome. However, the effects of such variants are unknown regarding the Native American ancestry of the admixed Latino population. Our objective was to assess the Native American genetic determinants of serum bilirubin in Chilean admixed adolescents using the local ancestry deconvolution approach. We measured total serum bilirubin levels in 707 adolescents of the Chilean Growth and Obesity Cohort Study (GOCS) and performed high-density genotyping using the Illumina-MEGA array (>1.7 million genotypes). We constructed a local ancestry reference panel with participants from the 1000 Genomes Project, the Human Genome Diversity Project, and our GOCS cohort. Then, we inferred and isolated haplotype tracts of Native American, European, or African origin to perform genome-wide association studies. In the whole cohort, the rs887829 variant and others near UGT1A1 were the unique signals achieving genome-wide statistical significance (b = 0.30; p = 3.34 × 10-57). After applying deconvolution methods, we found that significance is also maintained in Native American (b = 0.35; p = 3.29 × 10-17) and European (b = 0.28; p = 1.14 × 10-23) ancestry components. The rs887829 variant explained a higher percentage of the variance of bilirubin in the Native American (37.6%) compared to European ancestry (28.4%). In Native American ancestry, carriers of the TT genotype of this variant averaged 4-fold higher bilirubinemia compared to the CC genotype (p = 2.82 × 10-12). We showed for the first time that UGT1A1 variants are the primary determinant of bilirubin levels in Native American ancestry, confirming its pan-ethnic relevance. Our study illustrates the general value of the local ancestry deconvolution approach to assessing isolated ancestry effects in admixed populations.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Genetic determinants of serum bilirubin using inferred Native American variants in Chilean adolescents},

author = {Ana Pereira and Camila Corvalán },

doi = {10.3389/fgene.2024.1382103},

year  = {2024},

date = {2024-05-16},

journal = {Front. Genet.},

abstract = {- Otros autores: Miranda J, Miquel F, Alberti G, Gana J, Santos J.



- Cómo citar: Miranda J, Pereira A, Corvalán C, Miquel F, Alberti G, Gana J, Santos J. Genetic determinants of serum bilirubin using inferred Native American variants in Chilean adolescents. Front. Genet. 2024;401:10:03.000. doi: 10.3389/fgene.2024.1382103. PMID: 38826804. ISSN: 1664-8021. IF [JCR]: 2.8. Q2



- Resumen: Gene variants in the UGT1A1 gene are strongly associated with circulating bilirubin levels in several populations, as well as other variants of modest effect across the genome. However, the effects of such variants are unknown regarding the Native American ancestry of the admixed Latino population. Our objective was to assess the Native American genetic determinants of serum bilirubin in Chilean admixed adolescents using the local ancestry deconvolution approach. We measured total serum bilirubin levels in 707 adolescents of the Chilean Growth and Obesity Cohort Study (GOCS) and performed high-density genotyping using the Illumina-MEGA array (>1.7 million genotypes). We constructed a local ancestry reference panel with participants from the 1000 Genomes Project, the Human Genome Diversity Project, and our GOCS cohort. Then, we inferred and isolated haplotype tracts of Native American, European, or African origin to perform genome-wide association studies. In the whole cohort, the rs887829 variant and others near UGT1A1 were the unique signals achieving genome-wide statistical significance (b = 0.30; p = 3.34 × 10−57). After applying deconvolution methods, we found that significance is also maintained in Native American (b = 0.35; p = 3.29 × 10−17) and European (b = 0.28; p = 1.14 × 10−23) ancestry components. The rs887829 variant explained a higher percentage of the variance of bilirubin in the Native American (37.6%) compared to European ancestry (28.4%). In Native American ancestry, carriers of the TT genotype of this variant averaged 4-fold higher bilirubinemia compared to the CC genotype (p = 2.82 × 10−12). We showed for the first time that UGT1A1 variants are the primary determinant of bilirubin levels in Native American ancestry, confirming its pan-ethnic relevance. Our study illustrates the general value of the local ancestry deconvolution approach to assessing isolated ancestry effects in admixed populations.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Relation between Body Composition Trajectories from Childhood to Adolescence and Nonalcoholic Fatty Liver Disease Risk},

author = {Ana Pereira},

doi = {10.3390/nu16060785},

year  = {2024},

date = {2024-04-03},

journal = {Nutrients},

abstract = {- Otros autores: Alberti G, Faune M, Santos J, De Barbieri F, García C, Pereira A, Becerra F, Gana JC.



- Cómo citar: Kim CE, Pereira A, Binder AM, Amarasiriwardena C, Shepherd J, Corvalán C, Michels KB. Time-specific Impact of Trace Metals on Breast Density of Adolescent Girls in Santiago, Chile. Int. J. Cancer. 2024;15;155(4):627-636. doi: 10.1002/ijc.34930. PMID: 38567797. ISSN: 0020-7136. IF [JCR]: 4.7. Q1



- Resumen: Whether trace metals modify breast density, the strongest predictor for breast cancer, during critical developmental stages such as puberty remains understudied. Our study prospectively evaluated the association between trace metals at Tanner breast stage B1 (n = 291) and at stages both B1 and B4 (n = 253) and breast density at 2 years post-menarche among Chilean girls from the Growth and Obesity Cohort Study. Dual-energy x-ray absorptiometry assessed the volume of dense breast tissue (absolute fibroglandular volume [FGV]) and percent breast density (%FGV). Urine trace metals included arsenic, barium, cadmium, cobalt, cesium, copper, magnesium, manganese, molybdenum, nickel, lead, antimony, selenium, tin, thallium, vanadium, and zinc. At B1, a doubling of thallium concentration resulted in 13.69 cm3 increase in absolute FGV (β: 13.69, 95% confidence interval [CI]: 2.81, 24.52), while a doubling of lead concentration resulted in a 7.76 cm3 decrease in absolute FGV (β: –7.76, 95%CI: −14.71, −0.73). At B4, a doubling of barium concentration was associated with a 10.06 cm3 increase (β: 10.06, 95% CI: 1.44, 18.60), copper concentration with a 12.29 cm3 increase (β: 12.29, 95% CI: 2.78, 21.56), lead concentration with a 9.86 cm3 increase (β: 9.86, 95% CI: 0.73, 18.98), antimony concentration with a 12.97 cm3 increase (β: 12.97, 95% CI: 1.98, 23.79) and vanadium concentration with a 13.14 cm3 increase in absolute FGV (β: 13.14, 95% CI: 2.73, 23.58). Trace metals may affect pubertal breast density at varying developmental stages with implications for increased susceptibility for breast cancer.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Breast composition during and after puberty: the Chilean Growth and Obesity Cohort Study.},

author = {Ana Pereira and María Luisa Garmendia and Camila Corvalán},

year  = {2024},

date = {2024-03-12},

abstract = {- Otros autores:  Valeria Leiva, Karin B Michels, John Shepherd.



- Cómo citar:  Pereira, A., Garmendia, M. L., Leiva, V., Corvalán, C., Michels, K. B., & Shepherd, J. (2024). Breast composition during and after puberty: the Chilean Growth and Obesity Cohort Study. Breast cancer research : BCR, 26(1), 45. https://doi.org/10.1186/s13058-024-01793-x



- Resumen: Background: Breast density (BD) is a strong risk factor for breast cancer. Little is known about how BD develops during puberty. Understanding BD trajectories during puberty and its determinants could be crucial for promoting preventive actions against breast cancer (BC) at early ages. The objective of this research is to characterize % fibroglandular volume (%FGV), absolute fibroglandular volume (AFGV), and breast volume (BV) at different breast Tanner stages until 4-year post menarche in a Latino cohort and to assess determinants of high %FGV and AFGV during puberty and in a fully mature breast.

},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Breast composition during and after puberty: the Chilean Growth and Obesity Cohort Study},

author = {Ana Pereira and María Luisa Garmendia and Camila Corvalán},

doi = {10.1186/s13058-024-01793-x},

year  = {2024},

date = {2024-03-12},

journal = {Breast Cancer Res.},

abstract = {- Otros autores: Leiva V, Corvalán C, Michels K, Shepherd J.



- Cómo citar: Pereira A, Garmendia ML, Leiva V, Corvalán C, Michels K, Shepherd J. Breast composition during and after puberty: the Chilean Growth and Obesity Cohort Study. Breast Cancer Res. 2024;12;26(1)45. doi: 10.1186/s13058-024-01793-x. PMID: 38475816. ISSN: 1465-5411. IF [JCR]: 5.6. Q1



- Resumen: Breast density (BD) is a strong risk factor for breast cancer. Little is known about how BD develops during puberty. Understanding BD trajectories during puberty and its determinants could be crucial for promoting preventive actions against breast cancer (BC) at early ages. The objective of this research is to characterize % fibroglandular volume (%FGV), absolute fibroglandular volume (AFGV), and breast volume (BV) at different breast Tanner stages until 4-year post menarche in a Latino cohort and to assess determinants of high %FGV and AFGV during puberty and in a fully mature breast.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Relation between Body Composition Trajectories from Childhood to Adolescence and Nonalcoholic Fatty Liver Disease Risk},

author = {Ana Pereira},

doi = {https://doi.org/10.3390/nu16060785},

year  = {2024},

date = {2024-03-09},

urldate = {2024-03-09},

journal = {Nutrients, 2024},

abstract = {- Otros autores:  Gigliola Alberti, Mariana Faune, José L. Santos, Florencia De Barbieri, Cristián García, Fernando Becerra, Juan Cristóbal Gana.



- Cómo citar: Alberti, G., Faune, M., Santos, J. L., De Barbieri, F., García, C., Pereira, A., Becerra, F., & Gana, J. C. (2024). Relation between Body Composition Trajectories from Childhood to Adolescence and Nonalcoholic Fatty Liver Disease Risk. Nutrients, 16(6), 785. https://doi.org/10.3390/nu16060785



- Resumen: NAFLD has become the leading cause of chronic liver disease in children, as a direct consequence of the high prevalence of childhood obesity. This study aimed to characterize body composition trajectories from childhood to adolescence and their association with the risk of developing nonalcoholic fatty liver disease (NAFLD) during adolescence. The participants were part of the 'Chilean Growth and Obesity Cohort Study', comprising 784 children who were followed prospectively from age 3 years. Annual assessments of nutritional status and body composition were conducted, with ultrasound screening for NAFLD during adolescence revealing a 9.8% prevalence. Higher waist circumference measures were associated with NAFLD from age 3 years (p = 0.03), all skin folds from age 4 years (p < 0.01), and DXA body fat measurements from age 12 years (p = 0.01). The fat-free mass index was higher in females (p = 0.006) but not in males (p = 0.211). The second and third tertiles of the fat mass index (FMI) had odds ratios for NAFLD during adolescence of 2.19 (1.48-3.25, 95% CI) and 6.94 (4.79-10.04, 95% CI), respectively. Elevated waist circumference, skin folds, and total body fat were identified as risk factors for future NAFLD development. A higher FMI during childhood was associated with an increased risk of NAFLD during adolescence.

Keywords: body composition; fat mass index; fat-free mass Index; liver steatosis.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Post menarcheal growth patterns in a contemporary cohort of Latino girls},

author = {Pedro Ferrer and Ana Pereira },

doi = {10.1159/000536506},

year  = {2024},

date = {2024-01-31},

journal = {Horm. Res. Paediatr.},

abstract = {- Otros autores: Gaete X, Mericq V.



- Cómo citar: Gaete X, Ferrer-Rosende P, Pereira A, Mericq V. Post menarcheal growth patterns in a contemporary cohort of Latino girls. Horm. Res. Paediatr. 2025;98(1):66-74 doi: 10.1159/000536506. PMID: 38295778. ISSN: 1663-2818. IF [JCR]: 2.7. Q3



- Resumen: Menarche is the last stage of pubertal development, which coincides with the completion of longitudinal growth. As a consequence of the lack of national and up-to-date data related to post-menarcheal (PM) growth, the aim of our work was to evaluate PM growth in a group of contemporary healthy Chilean girls followed, prospectively, until 4 years PM.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Association between plasma leptin/adiponectin ratio and insulin resistance indexes in prepubertal children},

author = {Ana Pereira and Camila Corvalán },

doi = {doi: 10.20945/2359-4292-2022-0353},

year  = {2024},

date = {2024-01-22},

journal = {Arch. Endocrinol Metab. },

abstract = {- Otros autores: Bravo C, Mericq V, Tobar HE, Miranda JP, Santos JL.



- Cómo citar:  Bravo C, Mericq V, Pereira A, Corvalán C, Tobar HE, Miranda JP, Santos JL. Association between plasma leptin/adiponectin ratio and insulin resistance indexes in prepubertal children. Arch Endocrinol Metab. 2024 Jan 29;68:e220353. doi: 10.20945/2359-4292-2022-0353. PMID: 38289144.



- Resumen: Objective: To assess the association between leptin/adiponectin ratio (LAR) and insulin resistance surrogates in prepubertal children.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Post menarcheal growth patterns in a contemporary cohort of Latino girls},

author = {Pedro Ferrer and Ana Pereira },

doi = {doi: 10.1159/000536506},

year  = {2024},

date = {2024-01-22},

journal = {Horm. Res. Paediatr.},

abstract = {-  Otros autores: Gaete X, Mericq V.



- Cómo citar: 



- Resumen: Introduction: Menarche is the last stage of pubertal development, which coincides with the completion of longitudinal growth. As a consequence of the lack of national and up-to-date data related to post-menarcheal (PM) growth, the aim of our work was to evaluate post menarcheal growth in a group of contemporary healthy Chilean girls followed, prospectively, until 4 years post-menarche. Methods: This study was nested within the GOCS cohort, in a prospective fashion. The girls were followed yearly after menarche for at least four years. We modeled each girl growth using a Super Imposition by Translation and Rotation (SITAR) model. Results: A total of 534 girls were evaluated prospectively, 399 girls had height measured two years after menarche, 421 after three years, and 364 of 534 had height measured at four year post menarche. Expected height gained PM, in the complete study group was 6.6 ± 2.5 cm. We observed that the largest gain in height occurred after the first year PM (3.8 1.5 cm). According to the age of menarche, the group with earlier menarche (< 11 years old ) had a greater height gain in cm after four years PM ( 8.2± 3.2 cm ) and the smallest gain was among girls with menarche at an age older than 13 yr (4.4±1.6) ( p<0.001). Age at menarche was significantly associated with all post menarche growth patterns (size, timing and intensity), indicating that girls with older age at menarche grew taller, later and slower than girls with younger age at menarche. Adjusting PM growth pattern by BMI maintained all these association. Applying the SITAR model specifically , girls experiencing menarche after the age of 13 years exhibited slower growth , occurring slightly earlier and with less intensity when adjusted by BMI at menarche . Conclusion: In a national and updated dataset we observed that girls grew until 4 years post menarche an average of 6.6 ± 2.5 cm., with greatest gain occurring in the first year PM , (3.8 ± 1.5 cm). Age at menarche was associated with menarche growth patterns.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Time-specific Impact of Mono-Benzyl Phthalate (MBzP) and Perfluorooctanoic Acid (PFOA) on Breast Density of Adolescent Latino Girls},

author = {Camila Corvalán and Ana Pereira },

doi = {10.1016/j.envint.2023.108241},

year  = {2023},

date = {2023-10-16},

urldate = {2023-10-16},

journal = {Environ. Int.},

abstract = {- Otros autores: Kim C, Binder A, Corvalán C, Pereira A, Shepherd J, Calafat A, Botelho J, Hampton J, Trentham-Dietz A, Michels KB.

 

- Cómo citar: Kim, C. E., Binder, A. M., Corvalan, C., Pereira, A., Shepherd, J., Calafat, A. M., Botelho, J. C., Hampton, J. M., Trentham-Dietz, A., & Michels, K. B. (2023). Time-specific impact of mono-benzyl phthalate (MBzP) and perfluorooctanoic acid (PFOA) on breast density of a Chilean adolescent Cohort. Environment international, 181, 108241. https://doi.org/10.1016/j.envint.2023.108241



 - Resumen: Introduction: High mammographic density is among the strongest and most established predictors for breast cancer risk. Puberty, the period during which breasts undergo exponential mammary growth, is considered one of the critical stages of breast development for environmental exposures. Benzylbutyl phthalate (BBP) and perfluorooctanoic acid (PFOA) are pervasive endocrine disrupting chemicals that may increase hormone-sensitive cancers. Evaluating the potential impact of BBP and PFOA exposure on pubertal breast density is important to our understanding of early-life environmental influences on breast cancer etiology.



Objective: To prospectively assess the effect of biomarker concentrations of monobenzyl phthalate (MBzP) and PFOA at specific pubertal window of susceptibility (WOS) on adolescent breast density.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Association between markers of adiposity during childhood and puberty onset in Latino girls},

author = {Ana Pereira and Pedro Ferrer and Camila Corvalán},

doi = {doi: 10.1210/clinem/dgad294},

year  = {2023},

date = {2023-06-05},

urldate = {2023-06-05},

journal = {J. Clin. Endocrinol. Metab.},

abstract = {- Otros autores: Binder A, Rojas J, Michels K, Mericq V. 



- Cómo citar: Pereira A, Ferrer P, Binder A, Rojas J, Michels K, Corvalán C, Mericq V. Association between markers of adiposity during childhood and puberty onset in Latino girls. J. Clin. Endocrinol. Metab. 2023;dgad294. Online ahead of print. doi: 10.1210/clinem/dgad294. PMID: 37226986. ISSN: 0021-972X. IF [JCR]: 5.8. Q1



- Resumen: Context: Prepubertal adiposity is associated with earlier puberty. It is unclear when this association starts, if all adiposity markers are similarly associated, and whether all pubertal milestones are similarly affected.



Objective: To evaluate the association between different adiposity markers during childhood and the timing of different pubertal milestones in Latino girls.

Design, setting and participants: Longitudinal follow-up of 539 female participants of the Chilean Growth and Obesity Cohort (GOCS) recruited from childcare centers (mean age 3.5y) from the South East area of Santiago, Chile. Participants were singletons born between 2002-2003 within the normal birthweight range. Since 2006, a trained dietitian measured weight, height, waist circumference (WC) and skinfolds to estimate BMI CDC percentiles, central obesity, fat mass (%FM) and fat mass index (FMI = fat mass/height2).

Main outcome: since 2009, sexual maturation was assessed every 6 months to assess age at: i) thelarche, ii) pubarche, iii) menarche, and iv) age at peak height velocity (PHV).

Results: At thelarche, 12.5% were obese and 2% had central obesity. The median age of pubarche, menarche, and PHV were all associated with markers of adiposity at different time points during childhood; whereas thelarche only with %FM and FMI. Adiposity clusters models showed that children with trajectories of high WC, %FM and FMI during childhood were related with earlier thelarche, pubarche, menarche and PHV; BMI trajectories only with menarche and PHV.

Conclusions: Higher WC, %FM and FMI were associated with earlier age at thelarche, pubarche, menarche, and PHV. The effect of BMI was less consistent.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Differential methylation pattern in pubertal girls associated with biochemical premature adrenarche},

author = {Ana Pereira},

doi = {doi: 10.1080/15592294.2023.2200366},

year  = {2023},

date = {2023-05-08},

urldate = {2023-05-08},

journal = {Epigenetics},

abstract = {- Otros autores: Ponce D, Rodríguez F, Miranda JP, Binder AM, Santos JL, Michels KB, Cutler GB, Iñiquez G, Mericq V. 

 

- Cómo citar: Ponce D, Rodríguez F, Miranda JP, Binder AM, Santos JL, Michels KB, Cutler GB, Pereira A, Iñiquez G, Mericq V. Differential methylation pattern in pubertal girls associated with biochemical premature adrenarche. Epigenetics. 2023;18(1):2200366. doi: 10.1080/15592294.2023.2200366. PMID: 37053179. ISSN: 1559-2294. IF [JCR]: 3.7. Q2



 - Resumen: Biochemical premature adrenarche is defined by elevated serum DHEAS [≥40 μg/dL] before age 8 y in girls. This condition is receiving more attention due to its association with obesity, hyperinsulinemia, dyslipidemia, and polycystic ovary syndrome. Nevertheless, the link between early androgen excess and these risk factors remains unknown. Epigenetic modifications, and specifically DNA methylation, have been associated with the initiation and progression of numerous disorders, including obesity and insulin resistance. The aim of this study was to determine if prepubertal androgen exposure is associated with a different methylation profile in pubertal girls. Eighty-six healthy girls were studied. At age 7 y, anthropometric measurements were begun and DHEAS levels were determined. Girls were classified into Low DHEAS (LD) [<42 μg/dL] and High DHEAS (HD) [≥42 μg/dL] groups. At Tanner stages 2 and 4 a DNA methylation microarray was performed to identify differentially methylated CpG positions (DMPs) between HD and LD groups. We observed a differential methylation pattern between pubertal girls with and without biochemical PA. Moreover, a set of DNA methylation markers, selected by the LASSO method, successfully distinguished between HD and LD girls regardless of Tanner stage. Additionally, a subset of these markers were significantly associated with glucose-related measures such as insulin level, HOMA-IR, and glycaemia. This pilot study provides evidence consistent with the hypothesis that high DHEAS concentration, or its hormonally active metabolites, may induce a unique blood methylation signature in pubertal girls, and that this methylation pattern is associated with altered glucose metabolism.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {New insights from GWAS on BMI-related growth traits in a longitudinal cohort of admixed children with Native American and European ancestry},

author = {Ana Pereira},

doi = {10.1016/j.isci.2023.106091},

year  = {2023},

date = {2023-03-13},

urldate = {2023-03-13},

journal = {iScience},

abstract = {- Otros autores: Vicuña L, Barrientos E, Norambiena T, Alvares D, Gana JC, Leiva-Yamaguchi V, Meza C, Santos JL, Meriq V, Eyheramendy S.

 

- Cómo citar: Vicuña L, Barrientos E, Norambiena T, Alvares D, Gana JC, Leiva-Yamaguchi V, Meza C, Santos JL, Meriq V, Pereira A, Eyheramendy S. New insights from GWAS on BMI-related growth traits in a longitudinal cohort of admixed children with Native American and European ancestry. iScience. 2023; 26:106091. doi: 10.1016/j.isci.2023.106091. PMID: 36844456. EISSN: 2589-0042. IF [JCR]: 5.8. Q1



 - Resumen: Body-mass index (BMI) is a hallmark of adiposity. In contrast with adulthood, the genetic architecture of BMI during childhood is poorly understood. The few genome-wide association studies (GWAS) on children have been performed almost exclusively in Europeans and at single ages. We performed cross-sectional and longitudinal GWAS for BMI-related traits on 904 admixed children with mostly Mapuche Native American and European ancestries. We found regulatory variants of the immune gene HLA-DQB3 strongly associated with BMI at 1.5 −2.5 years old. A variant in the sex-determining gene DMRT1 was associated with the age at adiposity rebound (Age-AR) in girls (P=9.8×10−9). BMI was significantly higher in Mapuche than in Europeans between 5.5 and 16.5 years old. Finally, Age-AR was significantly lower (P=0.004) by 1.94 years and BMI at AR was significantly higher (P=0.04) by 1.2 kg/ m2, in Mapuche children compared with Europeans.

Keywords: Genomics; Health sciences; Human genetics.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_55,

title = {A comparison of various methods for measuring breast density and breast tissue composition in adolescent girls and women.},

author = {Ana Pereira},

doi = {10.1038/s41598-022-17800-0},

year  = {2022},

date = {2022-00-00},

urldate = {2022-00-00},

journal = {Sci Rep.},

abstract = {- Otros autores: Kehm RD, Walter EJ, White ML, Oskar S, Michels KB, Shepherd JA, Lilge L, Terry MB. 

 

- Cómo citar: Kehm RD, Walter EJ, White ML, Oskar S, Michels KB, Shepherd JA, Lilge L, Terry MB. A comparison of various methods for measuring breast density and breast tissue composition in adolescent girls and women. Sci Rep. 2022;12(1):13547. doi: 10.1038/s41598-022-17800-0. PMID: 35941279 PMCID: PMC9360013. ISSN: 2045-2322. IF [JCR]: 4.996. Q2 



 - Resumen: This study compared different approaches to measuring breast density and breast tissue composition (BTC) in adolescent girls (n = 42, aged 14–16 years) and their mothers (n = 39, aged 36–61 years) from a cohort in Santiago, Chile. Optical spectroscopy (OS) was used to measure collagen, water, and lipid concentrations, which were combined into a percent breast density index (%BDI). A clinical dual-energy X-ray absorptiometry (DXA) system calibrated to measure breast density provided percent fibroglandular volume (%FGV) from manually delineated images. After digitizing mammogram films, the percent mammographic breast density (%MBD) was measured using computer-assisted software. Partial correlation coefficients (rpartial) were used to evaluate associations between breast density measures and BTC from these three different measurement approaches, adjusting for age and body mass index. %BDI from OS was associated with %FGV from DXA in adolescent girls (rpartial = 0.46},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Assessment of a consensus definition of obesity and metabolic health phenotypes in children at different pubertal stages},

author = {Ana Pereira and Marcela Reyes and Camila Corvalán},

doi = {doi: 10.1038/s41598-022-25771-5},

year  = {2022},

date = {2022-00-00},

urldate = {2022-00-00},

journal = {Sci Rep.},

abstract = {- Otros autores: Espejo JP, Mericq V, Cifuentes M. 

 

- Cómo citar: Pereira A, Reyes M, Corvalán C, Espejo JP, Mericq V, Cifuentes M. Assessment of a consensus definition of obesity and metabolic health phenotypes in children at different pubertal stages. Sci Rep. 2022;12:21129. doi: 10.1038/s41598-022-25771-5. PMID: 36477173. ISSN: 2045-2322. IF [JCR]: 4.997. Q1



 - Resumen: Not all individuals with obesity develop metabolic complications, which has brought about the concepts of metabolically healthy and unhealthy obesity (MHO/MUO). However, inconsistent definitions of these conditions have limited their understanding. We assessed whether a recently-proposed consensus definition for MHO/MUO correlates with adiposity and reflects metabolic risk parameters during puberty. Low-middle income children from the Growth and Obesity Cohort Study (Santiago, Chile) were included (n = 949; 1692 visits at Tanner (T)2, T4 and/or one-year post menarche (1YPM)). Anthropometry, body composition and metabolic parameters were compared between MUO and MHO, and also in children without obesity. The risk for presenting MUO phenotype was significantly elevated with higher waist-height ratio (T2), zBMI (T2, T4), trunk fat, and C-reactive protein (T4). Elevated cardiometabolic indices were important predictors of the “unhealthy” phenotype allocation in children with or without obesity. Our observations suggest that the consensus definition in children at T2, T4 and 1YPM reflects metabolic risk and central obesity. Metabolic health phenotype allocation by this equation enables easy detection of risk factors that call for action to prevent long-term metabolic derangements in children with obesity and, importantly, also those without obesity.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Dietary Iron Intake in Relation to Age of Menarche: A Perspective Cohort Study in Chilean Girls},

author = {Ana Pereira and Camila Corvalán},

doi = {doi: 10.1016/j.tjnut.2022.10.002 },

year  = {2022},

date = {2022-00-00},

urldate = {2022-00-00},

journal = {Journal of Nutrition},

abstract = {- Otros autores: Ekwuocha I, Michels KB, Gaskins AJ.

 

- Cómo citar: Ekwuocha I, Pereira A, Corvalán C, Michels KB, Gaskins AJ. Dietary Iron Intake in Relation to Age of Menarche: A Perspective Cohort Study in Chilean Girls. J. Nutr. 2022;Preprint. doi: 10.1016/j.tjnut.2022.10.002. ISSN: 0022-3166. IF [JCR]: 4.735. Q1 



 - Resumen: This study compared different approaches to measuring breast density and breast tissue composition (BTC) in adolescent girls (n = 42, aged 14–16 years) and their mothers (n = 39, aged 36–61 years) from a cohort in Santiago, Chile. Optical spectroscopy (OS) was used to measure collagen, water, and lipid concentrations, which were combined into a percent breast density index (%BDI). A clinical dual-energy X-ray absorptiometry (DXA) system calibrated to measure breast density provided percent fibroglandular volume (%FGV) from manually delineated images. After digitizing mammogram films, the percent mammographic breast density (%MBD) was measured using computer-assisted software. Partial correlation coefficients (rpartial) were used to evaluate associations between breast density measures and BTC from these three different measurement approaches, adjusting for age and body mass index. %BDI from OS was associated with %FGV from DXA in adolescent girls (rpartial = 0.46, p-value = 0.003), but not in mothers (rpartial = 0.17, p-value = 0.32). In mothers, %FGV from DXA was associated with %MBD from mammograms (rpartial = 0.60, p-value < 0.001). These findings suggest that data from OS, DXA, and mammograms provide related but distinct information about breast density and BTC. Future studies should explore how the information provided by these different devices can be used for breast cancer risk prediction in cohorts of adolescent girls and women.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_74,

title = {Genome-Wide Association Study And Polygenic Risk Scores Of Serum Dheas Levels In A Chilean Children Cohort.},

author = {Camila Corvalán and Ana Pereira},

doi = {10.1210/clinem/dgab814},

year  = {2022},

date = {2022-00-00},

urldate = {2022-00-00},

journal = {J Clin Endocrinol Metab.},

abstract = {- Otros autores: Miranda JP, Lardone MC, Rodríguez F, Cutler GB Jr, Santos JL, Mericq V. 

 

- Cómo citar: Miranda JP, Lardone MC, Rodríguez F, Cutler GB Jr, Santos JL, Mericq V. Genome-Wide Association Study And Polygenic Risk Scores Of Serum Dheas Levels In A Chilean Children Cohort. J Clin Endocrinol Metab. 2022;107(4):e1727-e1738 doi: 10.1210/clinem/dgab814. PMID: 34748635. ISSN: 0021-972X. IF [JCR]: 6.134. Q1 

 

-Resumen: "Context: Adrenarche reflects the developmental growth of the adrenal zona reticularis, which produces increasing adrenal androgen secretion (eg, dehydroepiandrosterone [DHEA]/dehydroepiandrosterone sulfate [DHEAS]) from approximately age 5 to 15 years. 

Objective: We hypothesized that the study of the genetic determinants associated with variations in serum DHEAS during adrenarche might detect genetic variants influencing the rate or timing of this process. Methods: Genome-wide genotyping was performed in participants of the Chilean pediatric Growth and Obesity Chilean Cohort Study (GOCS) cohort (n = 788). We evaluated the genetic determinants of DHEAS levels at the genome-wide level and in targeted genes associated with steroidogenesis. To corroborate our findings, we evaluated a polygenic risk score (PRS) for age at pubarche, based on the discovered variants, in children from the same cohort. Results: We identified one significant variant at the genome-wide level in the full cohort, close to the GALR1 gene (P = 3.81 × 10-8). In addition, variants suggestive of association (P < 1 × 10-5) were observed in PRLR, PITX1, PTPRD, NR1H4, and BCL11B. Stratifying by sex, we found variants suggestive of association in SERBP1 and CAMTA1/VAMP3 for boys and near ZNF98, TRPC6, and SULT2A1 for girls. We also found significant reductions in age at pubarche in those children with higher PRS for greater DHEAS based on these newly identified variants. 

Conclusion: Our results disclose one variant associated with DHEAS concentrations at the level of genome-wide association study significance, and several variants with a suggestive association that may be involved in the genetic regulation of adrenarche."},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_65,

title = {Habitual Phytoestrogen Intake is Associated with Breast Composition in Girls at 2 Years after Menarche Onset.},

author = {Marcela Reyes and María Luisa Garmendia and Camila Corvalán and Ana Pereira},

doi = {10.1158/1055-9965.EPI-22-0016},

year  = {2022},

date = {2022-00-00},

urldate = {2022-00-00},

journal = {Cancer Epidemiol. Biomarkers Prev.},

abstract = {- Otros autores: Lesser C, Mericq V, Shepherd JA, Michels KB. 

 

- Cómo citar: Lesser C, Mericq V, Shepherd JA, Michels KB. Habitual Phytoestrogen Intake is Associated with Breast Composition in Girls at 2 Years after Menarche Onset. Cancer Epidemiol. Biomarkers Prev. 2022;31(7): 1334–1340. doi: 10.1158/1055-9965.EPI-22-0016. PMID: 35477112 PMCID: PMC9250624. ISSN: 1055-9965. IF [JCR]: 4.090. Q2 

 

-Resumen: "Background: High phytoestrogen intake during adolescence is associated with a reduced risk of breast cancer. Breast density (BD) is a strong predictor of breast cancer and can be considered an early marker. We aim to assess the association between the mean habitual intake of isoflavones, lignans, and total phytoestrogens intake during puberty until 2 years after menarche onset and absolute fibroglandular volume (AFGV) and percentage of fibroglandular volume (%FGV) in Hispanic girls at the end of puberty. 

Methods: Longitudinal study set up in the Growth and Obesity Chilean Cohort Study (GOCS). We included 329 girls with dietary data (multiple 24-hours recalls) from puberty until 2 years after menarche onset (81% had 2-4 recalls). Two international datasets were used to estimate isoflavones, lignans, and total phytoestrogens in the diet. Breast composition was measured by dual energy X-ray absorptiometry at 2 years after menarche. Multiple linear regression models were used to assess the association between isoflavones, lignans, and total phytoestrogens intake and AFGV and %FGV. Results: The average total phytoestrogen intake was 1 mg/day and %FGV was 50.7% (SD = 15.2) and AFGV 218.8 cm3 (SD = 79.3). An inverse association was found between consumption of isoflavones and AFGV, as well as, with total phytoestrogens [Q4 vs. Q1 adjusted model ß = -49.2 cm3; 95% CI (-85.5 to -13.0)]. 

Conclusions: Girls with a higher intake of total phytoestrogens and isoflavones during puberty until 2 years after menarche onset had significantly lower AFGV. 

Impact: Although the intake of phytoestrogens is low in Western populations, higher consumption of them during a critical period of life like puberty could be beneficial to reduce breast cancer during adulthood."},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_73,

title = {High DHEAS in girls and metabolic features throughout pubertal maturation.},

author = {Camila Corvalán and Ana Pereira},

doi = {10.1111/cen.14654},

year  = {2022},

date = {2022-00-00},

urldate = {2022-00-00},

journal = {Clin. Endocrinol.},

abstract = {- Otros autores: Merino PM, Santos JL, Iñiguez G, Cutler Jr. GB, Mericq V. 

 

- Cómo citar:Merino PM, Santos JL, Iñiguez G, Cutler Jr. GB, Mericq V. High DHEAS in girls and metabolic features throughout pubertal maturation. Clin. Endocrinol. 2022;96(3):419-427. doi: 10.1111/cen.14654. PMID: 34904249. ISSN: 0300-0664. IF [JCR]: 3.523. Q3 

 

-Resumen: "Context: An association between premature adrenarche and metabolic syndrome at presentation has been described. Our aim was to assess whether the presence of high dehydroepiandrosterone sulphate (DHEAS [HD]) at the adrenarche determines the risk of metabolic syndrome during puberty, taking into account body mass index (BMI) and birth weight. 

Design: Prospective observational. 

Patients: Five hundred four girls from the Growth and Obesity Chilean Cohort Study were followed from birth through puberty. At age ~7, subjects were classified by DHEAS concentrations into the HD (>75th percentile) or normal DHEAS (ND, ≤75th percentile) subgroups. 

Measurements: Anthropometrics, semiannual clinical pubertal staging and hormonal and metabolic levels. The relationships among DHEAS at age ~7, metabolic syndrome, and each of its components independently, were analyzed by linear and logistic regression models during puberty and 1-year postmenarche, adjusted by confounders. 

Results: Girls with HD at 7 years exhibited higher BMI, more central fat and higher serum androgen and insulin like growth factor (IGF)-I levels throughout puberty. Also, girls with HD had a greater prevalence of hyperglycemia at B2 and B4 breast stages, and of low HDL at B4. At 1 year after menarche, HD girls had a higher prevalence of metabolic syndrome, and those with BMI > 1 SD score had a higher metabolic score and insulin levels than ND girls with similar BMI. 

Conclusions: Our observations suggest that girls with HD at the age of adrenarche may be at greater risk for metabolic syndrome at adolescence, especially in those who are overweight or obese. Our results emphasize the importance of lifestyle interventions for childhood overweight and obesity among girls with HD."},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Higher prepubertal IGF-1 concentrations associate to earlier pubertal tempo in both sexes},

author = {Ana Pereira and Pedro Ferrer},

doi = {doi: 10.1159/000528662},

year  = {2022},

date = {2022-00-00},

urldate = {2022-00-00},

journal = {Horm. Res. Paediatr.},

abstract = {- Otros autores: Baier I, Iñiguez G, Mericq V.

 

- Cómo citar: Baier I, Pereira A, Ferrer P, Iñiguez G, Mericq V. Higher prepubertal IGF-1 concentrations associate to earlier pubertal tempo in both sexes. Horm. Res. Paediatr. 2022;Preprint. doi: 10.1159/000528662. PMID: 36513037. ISSN: 1663-2818. IF [JCR]: 4.275. Q1



 - Resumen: Introduction: Pubertal onset is triggered by multiple neuroendocrine interactions. The role of prepubertal IGF-1 in this process has not been explored in both sexes. Our objective is to analyze the association of prepubertal IGF-1 concentration with age at thelarche (B2) and menarche (M) in girls and age at gonadarche (G2) in boys. Methods: Longitudinal study (n=1196 boys and girls) within the Growth and Obesity Chilean cohort Study (GOCS). At ages ≈ 6.7 years blood sample for IGF-1. Subjects analyzed into 4 groups according to the onset age of the pubertal event.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_71,

title = {Sugar-sweetened beverage consumption and breast composition in a longitudinal study of Chilean girls.},

author = {Camila Corvalán and Ana Pereira},

doi = {10.1186/s13058-021-01495-8},

year  = {2022},

date = {2022-00-00},

urldate = {2022-00-00},

journal = {Breast Cancer Res.},

abstract = {- Otros autores: Yoon L, Shepherd J, Michels KB. 

 

- Cómo citar: Yoon L, Shepherd J, Michels KB. Sugar-sweetened beverage consumption and breast composition in a longitudinal study of Chilean girls. Breast Cancer Res. 2022;24(1):3. doi: 10.1186/s13058-021-01495-8. PMID: 34998441. PMCID: PMC8742361. ISSN: 1465-5411. IF [JCR]: 8.408. Q1 

 

-Resumen: "Background: Frequent sugar-sweetened beverage (SSB) intake has been associated with indirect markers of breast cancer risk, such as weight gain in adolescents and early menarche. How SSB intake relates to breast composition in adolescent girls has not been explored. 

Methods: We evaluated the association between prospective intake of SSB and breast density in a cohort of 374 adolescent girls participating in the Growth and Obesity Cohort Study in Santiago, Chile. Multivariable linear regression models were used to analyze the association between average daily SSB intake quartiles and breast composition (absolute fibroglandular volume [aFGV], percent fibroglandular volume [%FGV], total breast volume [tBV]). Models were adjusted for potential confounding by BMI Z-score, age, daily energy intake (g/day), maternal education, hours of daily television watching after school, dairy intake (g/day), meat intake (g/day), waist circumference, and menarche. To examine the sensitivity of the association to the number of dietary recalls for each girl, analyses were further stratified by girls with one dietary recall and girls with > one dietary recall. 

Results: A total of 881 dietary recalls were available for 374 girls prior to the breast density assessment. More than 60% of the cohort had > one dietary recall available. In multivariable analyses, we found no association between SSB intake quartile and aFGV (Q2 vs Q1 β: − 5.4, 95% CI − 15.1, 4.4; Q3 vs Q1 β: 1.3, 95% CI − 8.6, 11.3; Q4 vs Q1 β: 3.0, 95% CI − 7.1, 13). No associations were noted for %FGV and tBV. Among girls with at least one dietary recall, we found no significant associations between SSB intake quartiles and %FGV, aFGV, or tBV. 

Conclusion: Overall, we observed no evidence that SSB intake was associated with breast density in adolescent Chilean girls."},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_61,

title = {The association of age at menarche and adult height with mammographic density in the International Consortium of Mammographic Density.},

author = {Ana Pereira and María Luisa Garmendia},

doi = {10.1186/s13058-022-01545-9},

year  = {2022},

date = {2022-00-00},

urldate = {2022-00-00},

journal = {Breast Cancer Res.},

abstract = {- Otros autores: Ward SV, Burton A, Tamimi RM, Pollan M, Boyd N, Dos-Santos-Silva I, Maskarinec G, Perez-Gomez B, Vachon C, Miao H, Lajous M, López-Ridaura R, Bertrand K, Kwong A, Ursin G, Lee E, Ma H, Vinnicombe S, Moss S, Allen S, Ndumia R, Vinayak S, Teo SH, Mariapun S, Peplonska B, Bukowska-Damska A, Nagata C, Hopper J, Giles G, Ozmen V, Aribal ME, Schüz J, Van Gils CH, Wanders JOP, Sirous R, Sirous M, Hipwell J, Kim J, Lee JW, Dickens C, Hartman M, Chia KS, Scott C, Chiarelli AM, Linton L, Flugelman AA, Salem D, Kamal R, McCormack V, Stone J. 

 

- Cómo citar: Ward SV, Burton A, Tamimi RM, Pollan M, Boyd N, Dos-Santos-Silva I, Maskarinec G, Perez-Gomez B, Vachon C, Miao H, Lajous M, López-Ridaura R, Bertrand K, Kwong A, Ursin G, Lee E, Ma H, Vinnicombe S, Moss S, Allen S, Ndumia R, Vinayak S, Teo SH, Mariapun S, Peplonska B, Bukowska-Damska A, Nagata C, Hopper J, Giles G, Ozmen V, Aribal ME, Schüz J, Van Gils CH, Wanders JOP, Sirous R, Sirous M, Hipwell J, Kim J, Lee JW, Dickens C, Hartman M, Chia KS, Scott C, Chiarelli AM, Linton L, Flugelman AA, Salem D, Kamal R, McCormack V, Stone J. The association of age at menarche and adult height with mammographic density in the International Consortium of Mammographic Density. Breast Cancer Res. 2022;24(1):49. doi: 10.1186/s13058-022-01545-9. PMID: 35836268. PMCID: PMC9284807. ISSN: 1465-5411. IF [JCR]: 8.408. Q1 

 

- Resumen: "Background: Early age at menarche and tall stature are associated with increased breast cancer risk. We examined whether these associations were also positively associated with mammographic density, a strong marker of breast cancer risk. 

Methods: Participants were 10,681 breast-cancer-free women from 22 countries in the International Consortium of Mammographic Density, each with centrally assessed mammographic density and a common set of epidemiologic data. Study periods for the 27 studies ranged from 1987 to 2014. Multi-level linear regression models estimated changes in square-root per cent density (√PD) and dense area (√DA) associated with age at menarche and adult height in pooled analyses and population-specific meta-analyses. Models were adjusted for age at mammogram, body mass index, menopausal status, hormone therapy use, mammography view and type, mammographic density assessor, parity and height/age at menarche. Results: In pooled analyses, later age at menarche was associated with higher per cent density (β√PD = 0.023 SE = 0.008},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey,

title = {Variability in urinary phthalates, phenols, and parabens across childhood and relation to adolescent breast composition in Chilean girls},

author = {Ana Pereira and Camila Corvalán},

doi = {doi: 10.1016/j.envint.2022.107586},

year  = {2022},

date = {2022-00-00},

urldate = {2022-00-00},

journal = {Environ. Int.},

abstract = {- Otros autores: Yoon L, Binder A, Calafat A, Shepherd J, Michels K.

 

- Cómo citar: Yoon L, Binder A, Pereira A, Calafat A, Shepherd J, Corvalán C, Michels K. Variability in urinary phthalates, phenols, and parabens across childhood and relation to adolescent breast composition in Chilean girls. Environ. Int. 2022;107586. doi: 10.1016/j.envint.2022.107586. PMID: 36302292. ISSN: 0160-4120. IF [JCR]: 13.352. Q1

 



 - Resumen: Epidemiologic evidence suggests that environmental factors acting as endocrine disrupting chemicals (EDCs) are associated with mammographic breast density and the risk of breast cancer. Exposure to EDCs during puberty, a period of rapid breast development, may affect susceptibility to breast carcinogenesis.



Methods: In a cohort of 366 Chilean adolescents from the Growth and Obesity Cohort Study, we evaluated the relation between urinary concentrations of 15 suspected EDC biomarkers across three pubertal time points (Tanner breast stage 1 (B1), 4 (B4), and 1-year post-menarche) and breast fibroglandular volume (FGV; percent FGV [%FGV] and absolute FGV [aFGV]) and total breast volume (tBV) at 2-years post-menarche. We used linear mixed models to test differences in creatinine-corrected EDC biomarker concentrations at B4 and 1-year post-menarche compared to B1 and calculated intraclass correlation coefficients (ICC) of EDC concentrations across time points to appraise the consistency of measurements. We fit multivariable generalized estimating equations (GEEs) to evaluate windows of susceptibility for the association between log10-transformed EDCs and log10-transformed breast outcomes. GEEs were adjusted for age, body fat percentage, total caloric intake, and maternal education.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_91,

title = {Association between obesity with pattern and length of menstrual cycle: The role of metabolic and hormonal markers.},

author = {María Luisa Garmendia and Ana Pereira},

doi = {10.1016/j.ejogrb.2021.02.021},

year  = {2021},

date = {2021-00-00},

urldate = {2021-00-00},

journal = {Eur. J. Obstet. Gynecol. Reprod. Biol.},

abstract = {- Otros autores: Roman Lay A. 

 

- Cómo citar: Roman Lay A. Association between obesity with pattern and length of menstrual cycle: The role of metabolic and hormonal markers. Eur. J. Obstet. Gynecol. Reprod. Biol. 2021;260:225-231. doi: 10.1016/j.ejogrb.2021.02.021. PMID: 33741219. ISSN: 0301-2115. IF [JCR]: 2.831. Q3 

 

-Resumen: "Objectives: To evaluate in a sample of Chilean adult women, the association between adiposity markers with pattern and length of the menstrual cycle, assessing the influence of metabolic markers and hormones in this relationship. 

Study design: We conducted a cross-sectional study involving 401 premenopausal women belonging to the DERCAM study (Determinants of Breast Cancer Risk) from Santiago, Chile. The menstrual cycle pattern was defined as regular or irregular, while menstrual cycle length was categorized as short (≤25 d), normal (26–31d), and long (≥32d). Adiposity markers included body mass index (BMI), waist circumference (WC), waist-hip ratio (WHR), and body fat percentage (BFP). Insulin, sex-hormone-binding globulin (SHBG), estrone (E1), estradiol (E2), androstenedione (A2), follicle-stimulating hormone (FSH) and progesterone were measured in the follicular phase of the menstrual cycle. Results: There was no association between adiposity markers and cycle patterns. However, after all, metabolic and hormonal adjustments, women in the third tertile of BFP (RRR = 2.63; 95 % CI: 1.21.5.69) were more likely to have longer menstrual cycles. 

Conclusion: Women with high BFP presented a higher risk of having irregular menstrual cycles, which was an indicator of reproductive disorders; this relationship could be partially mediated by hormonal markers, especially SHBG, E1, and insulin levels."},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_85,

title = {Exposure to obesogenic endocrine disrupting chemicals and obesity among youth of Latino or Hispanic origin in the United States and Latin America: A lifecourse perspective.},

author = {Ana Pereira and Camila Corvalán},

doi = {10.1111/obr.13245},

year  = {2021},

date = {2021-00-00},

urldate = {2021-00-00},

journal = {Obes. Rev.},

abstract = {- Otros autores: Perng W, Cantoral A, Soria-Contreras DC, Betanzos-Robledo L, Kordas K, Liu Y, Mora AM, Cardoso MA, Chavarro JE, Breton CV, Meeker JD, Harley KG, Eskenazi B, Peterson KE, Tellez-Rojo MM. 

 

- Cómo citar: Perng W, Cantoral A, Soria-Contreras DC, Betanzos-Robledo L, Kordas K, Liu Y, Mora AM, Cardoso MA, Chavarro JE, Breton CV, Meeker JD, Harley KG, Eskenazi B, Peterson KE, Tellez-Rojo MM. Exposure to obesogenic endocrine disrupting chemicals and obesity among youth of Latino or Hispanic origin in the United States and Latin America: A lifecourse perspective. Obes. Rev. 2021;22(S3):e13245. doi: 10.1111/obr.13245. PMID: 33951277. ISSN:1467-789X. IF [JCR]: 10.867. Q1 

 

-Resumen: Following a 2019 workshop led by the Center for Global Health Studies at the Fogarty International Center on the topic of childhood obesity prevention and research synergies transpiring from cross-border collaborations, we convened a group of experts in the United States and Latin America to conduct a narrative review of the epidemiological literature on the role of obesogenic endocrine disrupting chemicals (EDCs) in the etiology of childhood obesity among Latino youth in the United States and Latin America. In addition to summarizing and synthesizing results from research on this topic published within the last decade, we place the findings within a lifecourse biobehavioral framework to aid in identification of unique exposure-outcome relationships driven by both biological and behavioral research, identify inconsistencies and deficiencies in current literature, and discuss the role of policy regulations, all with the goal of identifying viable avenues for prevention of early life obesity in Latino/Hispanic populations.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_84,

title = {Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys.},

author = {Ana Pereira},

doi = {10.1007/s00439-021-02290-3},

year  = {2021},

date = {2021-00-00},

urldate = {2021-00-00},

journal = {Hum. Genet.},

abstract = {- Otros autores: Vicuña L, Norambuena T, Miranda JP, Mericq V, Ongaro L, Montinaro F, Santos JL, Eyheramendy S. 

 

- Cómo citar: Vicuña L, Norambuena T, Miranda JP, Mericq V, Ongaro L, Montinaro F, Santos JL, Eyheramendy S. Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys. Hum. Genet. 2021;140:1651-1661. doi: 10.1007/s00439-021-02290-3. PMID: 34047840. ISSN: 0340-6717. IF [JCR]: 5.881. Q1 

 -Resumen: Puberty is a complex developmental process that varies considerably among individuals and populations. Genetic factors explain a large proportion of the variability of several pubertal traits. Recent genome-wide association studies (GWAS) have identified hundreds of variants involved in traits that result from body growth, like adult height. However, they do not capture many genetic loci involved in growth changes over distinct growth phases. Further, such GWAS have been mostly performed in Europeans, but it is unknown how these findings relate to other continental populations. In this study, we analyzed the genetic basis of three pubertal traits; namely, peak height velocity (PV), age at PV (APV) and height at APV (HAPV). We analyzed a cohort of 904 admixed Chilean children and adolescents with European and Mapuche Native American ancestries. Height was measured on roughly a [Formula: see text]month basis from childhood to adolescence between 2006 and 2019. We predict that, in average, HAPV is 4.3 cm higher in European than in Mapuche adolescents (P = 0.042), and APV is 0.73 years later in European compared with Mapuche adolescents (P = 0.023). Further, by performing a GWAS on 774, 433 single-nucleotide polymorphisms, we identified a genetic signal harboring 3 linked variants significantly associated with PV in boys (P [Formula: see text]). This signal has never been associated with growth-related traits.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_78,

title = {The association between breast density and gut microbiota composition at 2 years post menarche: A cross-sectional study of adolescents in Santiago, Chile.},

author = {Camila Corvalán and Ana Pereira},

doi = {10.3389/fcimb.2021.794610},

year  = {2021},

date = {2021-00-00},

urldate = {2021-00-00},

journal = {Front. Cell. Infect. Microbiol.},

abstract = {- Otros autores: Yoon LS, Jacobs JP, Hoehner J, Gana JC, Michels KB. 

 

- Cómo citar: Yoon LS, Jacobs JP, Hoehner J, Gana JC, Michels KB. The association between breast density and gut microbiota composition at 2 years post menarche: A cross-sectional study of adolescents in Santiago, Chile. Front. Cell. Infect. Microbiol. 2021;11:794610. doi: 10.3389/fcimb.2021.794610. PMID: 34976871. PMCID: PMC8718921. ISSN: 2235-2988. IF [JCR]: 6.073. Q1 

 -Resumen: The gut microbiome has been linked to breast cancer via immune, inflammatory, and hormonal mechanisms. We examined the relation between adolescent breast density and gut microbial composition and function in a cohort of Chilean girls. This cross-sectional study included 218 female participants in the Growth and Obesity Cohort Study who were 2 years post-menarche. We measured absolute breast fibroglandular volume (aFGV) and derived percent FGV (%FGV) using dual energy X-ray absorptiometry. All participants provided a fecal sample. The gut microbiome was characterized using 16S ribosomal RNA sequencing of the V3-V4 hypervariable region. We examined alpha diversity and beta diversity across terciles of %FGV and aFGV. We used MaAsLin2 for multivariable general linear modeling to assess differential taxa and predicted metabolic pathway abundance (MetaCyc) between %FGV and aFGV terciles. All models were adjusted for potential confounding variables and corrected for multiple comparisons. The mean %FGV and aFGV was 49.5% and 217.0 cm3, respectively, among study participants. Similar median alpha diversity levels were found across %FGV and aFGV terciles when measured by the Shannon diversity index (%FGV T1: 4.0, T2: 3.9, T3: 4.1; aFGV T1: 4.0, T2: 4.0, T3: 4.1). %FGV was associated with differences in beta diversity (R2 = 0.012},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_86,

title = {Total and central adiposity are associated with age at gonadarche and incidence of precocious gonadarche in boys.},

author = {Ana Pereira and Camila Corvalán},

doi = {10.1210/clinem/dgab064},

year  = {2021},

date = {2021-00-00},

urldate = {2021-00-00},

journal = {J. Clin. Endocrinol. Metab.},

abstract = {- Otros autores: Busch AS, Solares F, Baier I, Mericq V. 

 

- Cómo citar: Busch AS, Solares F, Baier I, Mericq V. Total and central adiposity are associated with age at gonadarche and incidence of precocious gonadarche in boys. J. Clin. Endocrinol. Metab. 2021;106(5):1352-1361. doi: 10.1210/clinem/dgab064. PMID: 33539513. ISSN:0021-972X. IF [JCR]: 6.134. Q1 

 

-Resumen: Context: A close link between body mass index (BMI) and female pubertal onset is well established. However, observations in boys remain inconclusive. 

Objective: We aim to determine whether BMI as well as total and central adiposity in prepubertal Chilean boys is associated with pubertal timing. 

Methods: We performed a longitudinal study in which 494 boys from the Growth and Obesity Chilean Cohort Study were followed starting from birth and throughout puberty, including 5 prepubertal visits. The main outcome measures included anthropometric data and semi-annual clinical pubertal staging. The association between BMI, obesity (BMI standard deviation score [SDS] ≥ 2) and central adiposity (waist circumference ≥ 90th centile) with precocious puberty and age at gonadarche was analyzed using survival- and logistic regression models. 

Results: BMI, prevalence of total obesity, and central obesity increased throughout childhood. Among the study population, 45 boys entered puberty before the age of 9 years (9.1%). Obesity at 4 to 7 years and childhood mean BMI SDS were significantly associated with precocious gonadarche. Mean age at testicular enlargement (≥4 mL), was 11.0 years (95% CI, 10.9-11.1) and was inversely associated with BMI SDS, waist circumference, and percentage fat mass in almost all prepubertal visits. Age at testicular enlargement in normal weight, overweight, and obese boys was 11.2 (11.0-11.3), 10.9 (10.6-11.1) and 10.7 (10.4-11.1) years, respectively. 

Conclusion: Our observation supports the association of BMI SDS and obesity with pubertal timing and precocious gonadarche in boys, respectively. Early intervention controlling the obesity epidemic could be useful in decreasing detrimental impact on later health.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_107,

title = {A polygenic risk score suggests shared genetic architecture of voice break with early markers of pubertal onset in boys.},

author = {Ana Pereira},

doi = {10.1210/clinem/dgaa003},

year  = {2020},

date = {2020-00-00},

urldate = {2020-00-00},

journal = {J. Clin. Endocrinol. Metab.},

abstract = {- Otros autores: Lardone MC, Busch A, Santos JL, Miranda P, Eyheramendy S, Juul A, Almstrup K, Mericq V. 

 

- Cómo citar: Lardone MC, Busch A, Santos JL, Miranda P, Eyheramendy S, Juul A, Almstrup K, Mericq V. A polygenic risk score suggests shared genetic architecture of voice break with early markers of pubertal onset in boys. J. Clin. Endocrinol. Metab. 2020;105(3):e349–e357. doi: 10.1210/clinem/dgaa003. PMID: 31915828. ISSN: 0021-972X. IF [JCR]: 6.134. Q1 

 

-Resumen: Context: Voice break, as a landmark of advanced male puberty in genome-wide association studies (GWAS), has revealed that pubertal timing is a highly polygenic trait. Although voice break is easily recorded in large cohorts, it holds quite low precision as a marker of puberty. In contrast, gonadarche and pubarche are early and clinically well-defined measures of puberty onset. 

Objective: To determine whether a polygenic risk score (PRS) of alleles that confer risk for voice break associates with age at gonadarche (AAG) and age at pubarche (AAP) in Chilean boys. 

Experimental design: Longitudinal study. Subjects and methods: 401 boys from the Growth and Obesity Chilean Cohort Study (n = 1194; 49.2% boys). 

Main outcome measures: Biannual clinical pubertal staging including orchidometry. AAG and AAP were estimated by censoring methods. Genotyping was performed using the Multi-Ethnic Global Array (Illumina). Using GWAS summary statistics from the UK-Biobank, 29 significant and independent single nucleotide polymorphisms associated with age at voice break were extracted. Individual PRS were computed as the sum of risk alleles weighted by the effect size. Results: The PRS was associated with AAG (β=0.01},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_98,

title = {Association between Indicators of Systemic Inflammation Biomarkers During Puberty with Breast Density and Onset of Menarche.},

author = {Camila Corvalán and Ana Pereira},

doi = {10.1186/s13058-020-01338-y},

year  = {2020},

date = {2020-00-00},

urldate = {2020-00-00},

journal = {Breast Cancer Res.},

abstract = {- Otros autores: Michels K, Keller K, Kim C, Santos JL, Shepherd J, Binder A. 

 

- Cómo citar: Michels K, Keller K, Kim C, Santos JL, Shepherd J, Binder A. Association between Indicators of Systemic Inflammation Biomarkers During Puberty with Breast Density and Onset of Menarche. Breast Cancer Res. 2020;22:1-14. doi: 10.1186/s13058-020-01338-y. PMCID: PMC7531086. PMID: 33004039. ISSN: 1465-5411. IF [JCR]: 8.408. Q1 

 

-Resumen: Background Systemic inflammation may play a role in shaping breast composition, one of the strongest risk factors for breast cancer. Pubertal development presents a critical window of breast tissue susceptibility to exogenous and endogenous factors, including pro-inflammatory markers. However, little is known about the role of systemic inflammation on adolescent breast composition and pubertal development among girls. Methods We investigated associations between circulating levels of inflammatory markers (e.g., interleukin-6 (IL-6), tumor necrosis factor receptor 2 (TNFR2), and C-reactive protein (CRP)) at Tanner stages 2 and 4 and breast composition at Tanner stage 4 in a cohort of 397 adolescent girls in Santiago, Chile (Growth and Obesity Cohort Study, 2006-2018). Multivariable linear models were used to examine the association between breast composition and each inflammatory marker, stratifying by Tanner stage at inflammatory marker measurement. Accelerated failure time models were used to evaluate the association between inflammatory markers concentrations at each Tanner stage and time to menarche. Results In age-adjusted linear regression models, a doubling of TNFR2 at Tanner 2 was associated with a 26% (95% CI 7-48%) increase in total breast volume at Tanner 4 and a 22% (95% CI 10-32%) decrease of fibroglandular volume at Tanner 4. In multivariable models further adjusted for body fatness and other covariates, these associations were attenuated to the null. The time to menarche was 3% (95% CI 1-5%) shorter among those in the highest quartile of IL-6 at Tanner 2 relative to those in the lowest quartile in fully adjusted models. Compared to those in the lowest quartile of CRP at Tanner 4, those in the highest quartile experienced 2% (95% CI 0-3%) longer time to menarche in multivariable models. Conclusions Systemic inflammation during puberty was not associated with breast volume or breast density at the conclusion of breast development among pubertal girls after adjusting for body fatness; however, these circulating inflammation biomarkers, specifically CRP and IL-6, may affect the timing of menarche onset.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_103,

title = {Effect of excessive gestational weight on daughters' breast density at the end of puberty onset.},

author = {María Luisa Garmendia and Ana Pereira and Camila Corvalán},

doi = {10.1038/s41598-020-63260-9},

year  = {2020},

date = {2020-00-00},

urldate = {2020-00-00},

journal = {Sci Rep.},

abstract = {- Otros autores: López A, Shepherd J, Michels K. 

 

- Cómo citar: López A, Shepherd J, Michels K. Effect of excessive gestational weight on daughters' breast density at the end of puberty onset. Sci Rep. 2020;10:6636. doi: 10.1038/s41598-020-63260-9. PMCID: PMC7171116. PMID: 32313106. ISSN: 2045-2322. IF [JCR]: 4.996. Q1 

 -Resumen: The effect of excessive gestational weight gain (EGWG) is related to adverse health outcomes in the offspring; however, its effect on the daughters’ breast density is unclear. We aimed to assess the association between EGWG and daughters’ breast composition (% of fibroglandular volume (%FGV) and absolute fibroglandular volume (AFGV)) at Tanner stage 4 (Tanner B4)). We included 341 girls and their mothers from an ongoing cohort of low-income Chilean girls born from 2002–2003. Maternal gestational weight gain was self-reported in 2007, and breast density by digital mammography was measured in 2010. Weight, height and breast composition by dual X-ray absorptiometry (DXA) were measured in daughters at Tanner B4. Logistic regression models were run to assess the association between EGWG and the 80th percentile of %FGV and AFGV. Mean gestational weight gain was 13.7 kg (SD = 6.9 kg). Women with pregestational overweight or obesity exceeded the recommended gestational weight gain (58.8% vs. 31.8%, respectively). Daughters of women who had EGWG had higher levels of AFGV (OR: 2.02; 95%CI 1.16–3.53) at Tanner B4, which could be explained by metabolic and hormonal exposure in utero. However, we did not observe an association with %FGV.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_108,

title = {Early Obesity: A Risk Factor for Fatty Liver Disease.},

author = {Ana Pereira and Camila Corvalán},

doi = {10.1097/MPG.0000000000002523},

year  = {2020},

date = {2020-00-00},

urldate = {2020-00-00},

journal = {J. Pediatr. Gastroenterol. Nutr.},

abstract = {- Otros autores: Cuzmar Benítez V, Alberti G, Uauy R, García C, de Barbieri F, Santos JL, Mericq V, Villarroel L, Gana JC. 

 

- Cómo citar: Cuzmar Benítez V, Alberti G, Uauy R, García C, de Barbieri F, Santos JL, Mericq V, Villarroel L, Gana JC. Early Obesity: A Risk Factor for Fatty Liver Disease. J. Pediatr. Gastroenterol. Nutr. 2020;70(1):93-98. doi: 10.1097/MPG.0000000000002523. PMID: 31651803. ISSN: 0277-2116. IF [JCR]: 2.839. Q2 

 

-Resumen: Nonalcoholic fatty liver disease (NAFLD), defined as fat accumulation greater than 5% in hepatocytes, may progress to fibrosis or cirrhosis later in life. NAFLD prevalence in adolescents has increased significantly in direct relation with obesity prevalence. Fatty liver has become the most frequent indication for liver transplantation in adults. 

Objective: The aim of the study was to identify anthropometric variables during the first 10 years of life associated to the risk of developing NAFLD in adolescence. 

Methods: Longitudinal cohort study 'Growth and Obesity Chilean Cohort Study' (GOCS) consisting of 513 children born in 2002 to 2003, with yearly anthropometric data collected over a 10-year period. The presence of intrahepatic fat in the livers of subjects 14 to 16 years of age was determined using abdominal ultrasound. In addition, elastography was performed on all participants with ultrasound evidence of NAFLD. 

Results: 9.7% of the participants presented findings compatible with NAFLD. After 2 years of age, obesity significantly and progressively increased the probability of NAFLD occurrence in adolescence. Obesity at 5 years of age was associated with the highest OR for NAFLD, reaching values of 8.91 (95% CI 3.03-16.11). Among participants with NAFLD, those with altered liver elasticity (≥7 kPa) had greater weight, BMI z-score, waist and hip circumference, and altered liver enzymes (P < 0.05). 

Conclusion: The risk of developing NAFLD in adolescence increases progressively with early obesity starting at age 2 years.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_110,

title = {Obesity and related metabolic biomarkers and its association with serum levels of estrogen in pre-pubertal Chilean girls.},

author = {Ana Pereira and Camila Corvalán},

doi = {10.1080/07435800.2019.1681448},

year  = {2020},

date = {2020-00-00},

urldate = {2020-00-00},

journal = {Endocr. Res.},

abstract = {- Otros autores: Mesa C, Mericq V. 

 

- Cómo citar: Mesa C, Mericq V. Obesity and related metabolic biomarkers and its association with serum levels of estrogen in pre-pubertal Chilean girls. Endocr. Res. 2020;45(2):102-110. doi: 10.1080/07435800.2019.1681448. PMID: 31668099. ISSN: 0743-5800. IF [JCR]: 2.306. Q4 

 

-Resumen: Purpose: Recent reports show that girls with higher body mass index (BMI) have an earlier puberty onset (thelarche). It has been suggested that earlier puberty is a consequence of higher levels of estrogen due to increased aromatization of androgens in adipose tissue. Thus, we aimed to assess the relation between serum levels of estrogen and excess weight (BMI ≥1SD) and central adiposity (>75th percentile for waist circumference) in prepubertal girls at age 7.Materials and Methods: We conducted a cross-sectional study within the Growth and Obesity Cohort Study of 1190 low-middle income children from Santiago, Chile. We selected a random sample of 107 prepubertal girls at age 7. A trained dietitian measured weight, height and waist circumference. Additionally, a fasting blood sample was collected to measure serum levels of estradiol equivalents (via ultrasensitive recombinant cell bioassay), dehydroepiandrosterone sulfate (DHEAS), insulin, insulin-like growth factor 1 (IGF-1), and leptin.Results: Excess weight was observed in 40% of our sample; 11.2% had high central adiposity, and the mean level of estradiol equivalents was 3.6 ± 2.3 pg/ml. In the univariate and multivariate analyzes, we did not observe an association between excess weight, central adiposity and estradiol equivalent levels; however, insulin was inversely associated with the serum level of estradiol equivalents.Conclusions: Our participants had a mean level of estradiol equivalents of 3.6 pg/ml (±2.3 pg/ml) at the pre-pubertal stage. However, with the exception of insulin, we did not observe an association between estradiol equivalents and markers of adiposity and metabolic and hormonal factors.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{nokey_97,

title = {Reproductive hormones during pubertal transition in girls with transient Thelarche.},

author = {Camila Corvalán and Ana Pereira},

doi = {10.1111/cen.14248},

year  = {2020},

date = {2020-00-00},

urldate = {2020-00-00},

journal = {Clin. Endocrinol.},

abstract = {- Otros autores: Soto J, Busch A.S., Almstrup K, Iñiguez G, Juul A, Mericq V. 

 

- Cómo citar: Soto J, Busch A.S., Almstrup K, Iñiguez G, Juul A, Mericq V. Reproductive hormones during pubertal transition in girls with transient Thelarche. Clin. Endocrinol. 2020;93(3):296-304. doi: 10.1111/cen.14248. PMID: 32419140. ISSN: 0300-0664. IF [JCR]: 3.523. Q3 

 

-Resumen: Context: Transient thelarche (TT), that is, the appearance, regression and subsequent reappearance of breast buds, is a frequent phenomenon, but little is known about pubertal transition in these girls. 

Objective: To describe pubertal progression, growth, genotypes, reproductive hormones and growth factors in girls with TT compared to those who do not present TT (non-TT). 

Design: Retrospective analysis of a longitudinal population-based study. Patients or other participants: Girls (n = 508) of the Chilean Growth and Obesity cohort. 

Measurements: Pubertal progression, reproductive hormones, follicle stimulating hormone (FSH) beta subunit/FSH receptor gene single nucleotide polymorphisms and growth. Results: Thirty-seven girls (7.3%) were presented TT. These girls entered puberty by pubarche more frequently (51%) than girls with normal progression (non-TT; n = 471; 23%},

keywords = {},

pubstate = {published},

tppubtype = {article}

}