Hundreds of Genomic Regions Linked to Age at Menarche

NEW YORK (GenomeWeb) – An international team of researchers has uncovered nearly 400 genomic regions associated with age at menarche.

Age at onset of puberty is affected by a combination of genetic, nutritional, and other environmental factors and that timing, in turn, is associated with risk of cancer later in life.

By turning to genome-wide array data from some 330,000 women imputed to the 1000 Genomes Project reference panel, a University of Cambridge- and DeCode Genetics-led team of researchers identified hundreds of signals linked to age at menarche, as they reported in Nature Genetics today. They traced some of these signals to genes expressed in neural tissue and noted variants near paternally imprinted genes. The researchers also reported an inverse association between puberty onset and breast, endometrial, and prostate cancers.

“[O]ur findings suggest unprecedented genetic complexity in the regulation of puberty timing and support new causal links with susceptibility to sex steroid-sensitive cancers in women and men,” the researchers led by DeCode’s Kari Stefansson and Cambridge’s Ken Ong and John Perry wrote in their paper.

The researchers folded together data from 40 studies from the ReproGen Consortium with data from 23andMe and UK Biobank studies to yield data from 329,345

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