Publicaciones académicas
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2025
Garmendia, María Luisa; Martínez, Ángela; Pereira, Ana
High dietary total energy intake and energy density are associated with girl's breast density during puberty Artículo de revista
En: Eur. J. Nutr., 2025.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Pereira, Ana
Prevalence of fatty pancreas and its relation with anthropometric values on the growth and obesity Cohort study Actas de congresos
2025.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@proceedings{nokey,
title = {Prevalence of fatty pancreas and its relation with anthropometric values on the growth and obesity Cohort study},
author = {Ana Pereira},
doi = {10.1016/j.jped.2024.09.007},
year = {2025},
date = {2025-06-09},
journal = {J. Pediatr.},
abstract = {- Otros autores: Alberti G, Cantillo T, De Barbieri F, García C, Villaroel L, Gana JC.
- Cómo citar: Alberti G, Cantillo T, Pereira A, De Barbieri F, García C, Villaroel L, Gana JC. Prevalence of fatty pancreas and its relation with anthropometric values on the growth and obesity Cohort study. J. Pediatr. 2025;S0021-7557(24)00145-1. doi: 10.1016/j.jped.2024.09.007. PMID: 39657903. ISSN: 0021-7557. IF [JCR]: 2.5. Q1
- 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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {proceedings}
}
- Otros autores: Alberti G, Cantillo T, De Barbieri F, García C, Villaroel L, Gana JC.
- Cómo citar: Alberti G, Cantillo T, Pereira A, De Barbieri F, García C, Villaroel L, Gana JC. Prevalence of fatty pancreas and its relation with anthropometric values on the growth and obesity Cohort study. J. Pediatr. 2025;S0021-7557(24)00145-1. doi: 10.1016/j.jped.2024.09.007. PMID: 39657903. ISSN: 0021-7557. IF [JCR]: 2.5. Q1
- 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.
- Cómo citar: Alberti G, Cantillo T, Pereira A, De Barbieri F, García C, Villaroel L, Gana JC. Prevalence of fatty pancreas and its relation with anthropometric values on the growth and obesity Cohort study. J. Pediatr. 2025;S0021-7557(24)00145-1. doi: 10.1016/j.jped.2024.09.007. PMID: 39657903. ISSN: 0021-7557. IF [JCR]: 2.5. Q1
- 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.
Pereira, Ana
Circulating Bilirubin Levels, but Not Their Genetic Determinants, Are Inversely Associated with Steatotic Liver Disease in Adolescents Artículo de revista
En: Int. J. Mol. Sci., 2025.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Pereira, Ana
Early childhood adiposity, lifestyle and gut microbiome are linked to steatotic liver disease development in adolescents Artículo de revista
En: Int. J. Obes., 2025.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Pereira, Ana; Ferrer, Pedro
Prolactin and Adrenal Androgens during Adrenarche Artículo de revista
En: Clin. Endocrinol., 2025.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Pereira, Ana
Urinary Estrogens in Girls Throughout Puberty as a Marker of Metabolic Risk and Their Relationship With Premature Adrenarche Artículo de revista
En: Clin. Endocrinol., 2025.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
2024
Pereira, Ana
Prevalence of fatty pancreas and its relation with anthropometric values on the growth and obesity Cohort study Artículo de revista
En: Jornal de pediatria, 2024.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Pereira, Ana
Differential Methylation of CYP11B1 in Girls with High DHEAS Levels and correlation with 11-Oxyandrogen levels: a pilot study Artículo de revista
En: Hormone research in paediatrics, 2024.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Pereira, Ana
Differential Methylation of CYP11B1 in Girls with High DHEAS Levels and correlation with 11-Oxyandrogen levels: a pilot study Artículo de revista
En: Horm. Res. Paediatr., 2024.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Pereira, Ana
Joint models reveal genetic architecture of pubertal stage transitions and their association with BMI in admixed Chilean population Artículo de revista
En: Human molecular genetics, 2024.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Pereira, Ana
Joint model shows association of Mapuche enetic ancesry and longitudinal BMI with early menarche Artículo de revista
En: Human Molecular Genetics, 2024.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Pereira, Ana; Corvalán, Camila
Genetic determinants of serum bilirubin using inferred Native American variants in Chilean adolescents Artículo de revista
En: Front. Genet., 2024.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Pereira, Ana
Relation between Body Composition Trajectories from Childhood to Adolescence and Nonalcoholic Fatty Liver Disease Risk Artículo de revista
En: Nutrients, 2024.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Pereira, Ana
Relation between Body Composition Trajectories from Childhood to Adolescence and Nonalcoholic Fatty Liver Disease Risk Artículo de revista
En: Nutrients, 2024, 2024.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.
Ferrer, Pedro; Pereira, Ana
Post menarcheal growth patterns in a contemporary cohort of Latino girls Artículo de revista
En: Horm. Res. Paediatr., 2024.
Resumen | Enlaces | Etiquetas: L3: Ventanas Críticas del Desarrollo: Adolescencia. /
@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 = {L3: Ventanas Críticas del Desarrollo: Adolescencia. /},
pubstate = {published},
tppubtype = {article}
}
- 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.
- 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.