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Lardone, M.C.; Busch, A.S.; Santos, J.L.; Miranda, P.; Eyheramendy, S.; Pereira, A.; Juul, A.; Almstrup, K.; Mericq, V. |
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Title  |
A Polygenic Risk Score Suggests Shared Genetic Architecture of Voice Break With Early Markers of Pubertal Onset in Boys |
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2020 |
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Journal Of Clinical Endocrinology & Metabolism |
Abbreviated Journal |
J. Clin. Endocrinol. Metab. |
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105 |
Issue |
3 |
Pages |
E349-E357 |
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Keywords |
gonadarche; pubarche; polygenic risk score; GWAS; male puberty |
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Abstract |
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 (beta=0.01, P = 0.04) and AAP (beta=0.185, P = 0.0004). In addition, boys within the 20% highest PRS experienced gonadarche and pubarche 0.55 and 0.67 years later than those in the lowest 20%, respectively (P = 0.013 and P = 0.007). Conclusions: Genetic variants identified in large GWAS on age at VB significantly associate with age at testicular growth and pubic hair development, suggesting that these events share a genetic architecture across ethnically distinct populations. |
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Address |
[Lardone, Maria C.; Mericq, Veronica] Univ Chile, Sch Med, Inst Maternal & Child Res, Santiago 8360160, Chile, Email: vmericq@med.uchile.cl |
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Endocrine Soc |
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English |
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0021-972x |
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WOS:000525870500035 |
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UAI @ eduardo.moreno @ |
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1151 |
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Author |
Vicuna, L.; Barrientos, E.; Norambuena, T.; Alvares, D.; Gana, J.C.; Leiva-Yamaguchi, V.; Meza, C.; Santos, J.L.; Mericq, V.; Pereira, A.; Eyheramendy, S. |
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Title |
New insights from GWAS on BMI-related growth traits in a longitudinal cohort of admixed children with Native American and European ancestry |
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Year |
2023 |
Publication |
iScience |
Abbreviated Journal |
iScience |
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Volume |
26 |
Issue |
2 |
Pages |
106091 |
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Abstract |
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 x 10(-9)). BMI was significantly higher in Mapuche than in Europeans between 5.5 and 16.5 years old. Finally, Ag |
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2589-0042 |
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WOS:000990651700001 |
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UAI @ alexi.delcanto @ |
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1808 |
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