Genes linked to premature ovarian insufficiency show no pathogenicity in the general population
Murray, A; Perry, J
Date: 3 July 2023
Article
Journal
Nature Medicine
Publisher
Nature Research
Publisher DOI
Related links
Abstract
We investigated the presence of genetic variants for 105 genes previously associated with premature ovarian insufficiency (POI) in over 100,000 women. We found that predicted damaging variants in these genes were commonly found in the heterozygous state in women that had menopause within the normal age range. This suggests that monogenic ...
We investigated the presence of genetic variants for 105 genes previously associated with premature ovarian insufficiency (POI) in over 100,000 women. We found that predicted damaging variants in these genes were commonly found in the heterozygous state in women that had menopause within the normal age range. This suggests that monogenic causes of POI are rare, and that POI is more likely to be a polygenic disorder.
Clinical and Biomedical Sciences
Faculty of Health and Life Sciences
Item views 0
Full item downloads 0