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.

青春期的时间变化很大，并且与长期健康结果相关。迄今为止，对青春期时间的基因控制的理解主要基于对女性的研究。在这里，我们报告了一项针对男性青春期时间的多性状全基因组关联研究，有效样本量为 205,354 名男性。我们发现两性之间青春期时间的基因组相关性中等强（rg = 0.68），并确定了 76 个男性青春期时间的独立信号。牵连的机制包括青春期时间和自然头发颜色之间意想不到的联系，可能反映了垂体激素对青春期和色素沉着的共同影响。男性青春期提前与多种不良健康结果存在遗传相关性，孟德尔随机化分析显示男性青春期提前与寿命缩短之间存在遗传关联。这些发现强调了青春期时间与健康结果之间的关系，并证明了青春期时间基因研究在两性中的价值。