Browsing by Author "Mericq, Verónica"
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- ItemA Polygenic Risk Score Suggests Shared Genetic Architecture of Voice Break With Early Markers of Pubertal Onset in Boys(2020) Lardone, María C.; Busch, Alexander S.; Santos Martín, José Luis; Miranda, José Patricio; Eyheramendy Duerr, Susana; Pereira, Ana; Juul, Anders; Almstrup, Kristian; Mericq, Verónica; José Patricio, Miranda
- ItemAccelerated early pubertal progression, ovarian morphology, and ovarian function in prospectively followed low birth weight (LBW) girls(2013) Hernández, María Isabel; Martínez Aguayo, Alejandro Gregorio; Cavada Chacón, Gabriel; Peña Novoa, Verónica; Trejo, León; Ávila, Alejandra; Salazar Cornejo, Teresa; Asenjo, Sylvia; Iñíguez Vila, Germán; Rey, Rodolfo; Mericq, Verónica
- ItemAssociation between plasma leptin/adiponectin ratio and insulin resistance indexes in prepubertal children(2024) Bravo, Carolina; Mericq, Verónica; Pereira, Ana; Corvalán, Camila; Tobar, Hugo E.; Miranda, José Patricio; Santos, José Luis
- ItemBreast bud detection: a validation study in the Chilean Growth Obesity Cohort Study(2014) Pereira, Ana; Garmendia, María, Luisa; González, Daniela; Kain, Juliana; Mericq, Verónica; Uauy, Ricardo; Corvalán, Camila
- ItemCorrection to: Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys (Human Genetics, (2021), 10.1007/s00439-021-02290-3)(Springer Science and Business Media Deutschland GmbH, 2021) Vicuña, Lucas; Norambuena, Tomás; Miranda, José Patricio; Eyheramendy, Susana; Pereira, Ana; Mericq, Verónica; Ongaro, Linda; Montinaro, Francesco; Lorenzoni Santos, José Guillermo© 2021, Springer-Verlag GmbH Germany, part of Springer Nature.Several typos were introduced in the original article and they have been corrected. The original article has been revised.
- ItemDifferential Methylation of CYP11B1 in Girls with High DHEAS Levels and Correlation with 11-Oxyandrogen Levels: A Pilot Study(S. Karger AG, 2024) Rodríguez, Fernando; Ponce, Diana; Miranda Marín, José Patricio; Santos Martín, José Luis; Cutler Jr., Gordon B.; Pereira, Ana; Barnafi, Esteban; Iniguez, Germán; Mericq, VerónicaIntroduction: 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. Objective: The aim of the study was to determine whether circulating 11-oxyandrogen levels in post-menarcheal girls are associated with the methylation status of genes involved in 11- oxyandrogen steroidogenesis. Methods: Ninety-seven healthy girls followed since the age of 3 years were classified, according to DHEAS serum concentration at age 6.7 years, as normal DHEAS (<42 μg/dL [75th percentile for population]) or high DHEAS (≥42 μg/dL). At Tanner stage 2, themethylation status of CpG sites located in CYP11B1 and HSD11B2 genes was analyzed in genomic DNA from peripheral blood leukocytes by the melting curve analysis methylation assay. Eleven-oxyandrogen concentrations were assessed at 4 years post menarche. Results: Significantly lower methylation levels were detected in the CYP11B1 gene in girls with high versus normal serum DHEAS levels, with no differences found in HSD11B2 gene. Additionally, CYP11B1 methylation status correlated inversely with 11β-hydroxy-androstenedione and 11-ketotestosterone levels. Furthermore, CYP11B1 methylation in the full cohort correlated inversely with insulin concentration at Tanner 1 and with body mass index at Tanner stage 1 and 2. Conclusion: This pilot study proposes the hypothesis that a lowermethylation of CYP11B1 may be a mechanism contributing to increased concentrations of 11-oxyandrogens in premature adrenarche and its associated metabolic risk.
- ItemDifferential Methylation of CYP11B1 in Girls with High DHEAS Levels and Correlation with 11-Oxyandrogen Levels: A Pilot Study(Birkhauser, 2024) Rodríguez, Fernando; Ponce, Diana; Miranda Marín, José Patricio; Santos Martín, José Luis; Cutler Jr., Gordon B.; Pereira, Ana; Barnafi, Esteban; Iniguez, Germán; Mericq, VerónicaIntroduction: 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. Objective: The aim of the study was to determine whether circulating 11-oxyandrogen levels in post-menarcheal girls are associated with the methylation status of genes involved in 11- oxyandrogen steroidogenesis. Methods: Ninety-seven healthy girls followed since the age of 3 years were classified, according to DHEAS serum concentration at age 6.7 years, as normal DHEAS (<42 μg/dL [75th percentile for population]) or high DHEAS (≥42 μg/dL). At Tanner stage 2, themethylation status of CpG sites located in CYP11B1 and HSD11B2 genes was analyzed in genomic DNA from peripheral blood leukocytes by the melting curve analysis methylation assay. Eleven-oxyandrogen concentrations were assessed at 4 years post menarche. Results: Significantly lower methylation levels were detected in the CYP11B1 gene in girls with high versus normal serum DHEAS levels, with no differences found in HSD11B2 gene. Additionally, CYP11B1 methylation status correlated inversely with 11β-hydroxy-androstenedione and 11-ketotestosterone levels. Furthermore, CYP11B1 methylation in the full cohort correlated inversely with insulin concentration at Tanner 1 and with body mass index at Tanner stage 1 and 2. Conclusion: This pilot study proposes the hypothesis that a lowermethylation of CYP11B1 may be a mechanism contributing to increased concentrations of 11-oxyandrogens in premature adrenarche and its associated metabolic risk.
- ItemDifferential methylation pattern in pubertal girls associated with biochemical premature adrenarche(2023) Ponce, Diana; Rodríguez, Fernando; Miranda, José P.; Binder, Alexandra M.; Santos, José L.; Michels, Karin B.; Cutler, Gordon B.; Pereira, Ana; Iñiguez, Germán; Mericq, VerónicaBiochemical 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, hyper-insulinemia, dyslipidemia, and polycystic ovary syndrome. Nevertheless, the link between early androgen excess and these risk factors remains unknown. Epigenetic modifications, and specifi-cally 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 bio-chemical 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.
- ItemFaster ticking rate of the epigenetic clock is associated with faster pubertal development in girls(2018) Binder, Alexandra M.; Corválan, Camila; Mericq, Verónica; Pereira, Ana; Santos Martín, José Luis; Horvath, Steve; Shepherd, John; Michels, Karin B.
- ItemNew insights from GWAS on BMI-related growth traits in a longitudinal cohort of admixed children with Native American and European ancestry(CELL PRESS, 2023) Vicuña, Lucas; Barrientos, Esteban; Norambuena, Tomás; Alvares, Danilo; Gana Ansaldo, Juan Cristóbal; Leiva Yamaguchi, Valeria; Meza, Cristian; Lorenzoni Santos, José Guillermo; Mericq, Verónica; Pereira, Ana; Eyheramendy, SusanaBody-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 x 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/m(2), in Mapuche children compared with Europeans.
- ItemPseudohypoparathyroidism type 1B associated with assisted reproductive technology(2017) Fernández, Mónica; Zambrano, María José; Riquelme, Joel; Castiglioni, Claudia; Kottler, Marie-Laure; Jüppner, Harald; Mericq, Verónica
- ItemUltrasensitive estrogen levels at 7 years of age predict earlier thelarche : evidence from girls of the growth and obesity Chilean cohort(2015) Pereira, Ana; Corvalán, Camila; Uauy, Ricardo; Klein, Karen O.; Mericq, Verónica