rs10477172 - NDFIP1 - SPRY4

Magnitude 2.2 · 1 study on file

Reported associations

• Genetic insights into biological mechanisms governing human ovarian ageing - Unknown journal (n.d.) · Unknown authors · PubMed 34349265

  ABSTRACT: Reproductive longevity is critical for fertility and impacts healthy ageing in women, yet insights into the underlying biological mechanisms and treatments to preserve it are limited. Here, we identify 290 genetic determinants of ovarian ageing, assessed using normal variation in age at natural menopause (ANM) in ~200,000 women of European ancestry. These common alleles were associated with clinical extremes of ANM; women in the top 1% of genetic susceptibility have an equivalent risk of premature ovarian insufficiency to those carrying monogenic FMR1 premutations. Identified loci implicate a broad range of DNA damage response (DDR) processes and include loss-of-function variants in key DDR genes. Integration with experimental models demonstrates that these DDR processes act acro

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