Expanded genomic analyses for male voice-breaking highlights a shared phenotypic and genetic basis between puberty timing and hair colour

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The timing of puberty is highly variable and is associated with long-term health outcomes. To date, understanding of the genetic control of puberty timing is based largely on studies in women. Here, we report a multi-trait genome-wide association study for male puberty timing with an effective sample size of 205,354 men. We find moderately strong genomic correlation in puberty timing between sexes (rg=0.68) and identify 76 independent signals for male puberty timing. Implicated mechanisms include an unexpected link between puberty timing and natural hair colour, possibly reflecting common effects of pituitary hormones on puberty and pigmentation. Earlier male puberty timing is genetically correlated with several adverse health outcomes and Mendelian randomization analyses show a genetic association between male puberty timing and shorter lifespan. These findings highlight the relationships between puberty timing and health outcomes, and demonstrate the value of genetic studies of puberty timing in both sexes.

Adult, Age Factors, Cohort Studies, Female, Genome-Wide Association Study, Hair Color, Humans, Longevity, Male, Menarche, Mendelian Randomization Analysis, Polymorphism, Single Nucleotide, Puberty, Sexual Maturation, Time Factors, Young Adult
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Nature Communications
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Springer Nature
Medical Research Council (MC_UU_12015/2)
National Cancer Institute (U19CA148537)
European Commission (223175)
Cancer Research UK (A16563)
Cancer Research UK (A10118)
MRC (MC_UU_00006/2)
This work was funded by the UK Medical Research Council (MRC; Unit programme MC_UU_12015/2) and used UK Biobank data under application 9905. The MRC, Wellcome Trust (Grant ref: 102215/2/13/2) and the University of Bristol provide core support for ALSPAC.
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