A recent study published in Nature Genetics focused on genome-wide analysis of nearly 800,000 women’s DNA to examine genetic factors influencing puberty timing, specifically age at menarche (AAM) in females. Researchers identified 1,080 distinct signals related to AAM, explaining 11% of trait variation. They found that polygenic risk factors affected puberty timing, with extremes in risk correlating with delayed or precocious puberty. Rare loss-of-function mutations in genes like ZNF483 influenced polygenic risk and AAM timing. The study highlights the importance of understanding genetic influences on puberty and their potential impact on later-life health outcomes.
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More than 1,000 small changes in DNA identified that influence age of first period
