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.

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Journal Nature Communications
Hollis, B., Day, F.R, Busch, A.S., Thompson, DJ, Soares, A. L. F., & Timmers, P.R.H.J. (2020). Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan. Nature Communications, 11(1). doi:10.1038/s41467-020-14451-5