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Author |
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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Year |
2020 |
Publication |
Journal Of Clinical Endocrinology & Metabolism |
Abbreviated Journal |
J. Clin. Endocrinol. Metab. |
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Volume |
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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Publisher |
Endocrine Soc |
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English |
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ISSN |
0021-972x |
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Notes |
WOS:000525870500035 |
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Call Number |
UAI @ eduardo.moreno @ |
Serial |
1151 |
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