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.
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References
Ke, H. et al. Landscape of pathogenic mutations in premature ovarian insufficiency. Nat. Med. 29, 483–492 (2023). This paper evaluates the prevalence of predicted pathogenic variants in POI genes in a cohort of POI cases.
Wesevich, V., Kellen, A. N. & Pal, L. Recent advances in understanding primary ovarian insufficiency. F1000Res 9, F1000 (2020). Faculty Rev-1101A review article about POI.
Backman, J. D. et al. Exome sequencing and analysis of 454,787 UK Biobank participants. Nature 599, 628–634 (2021). An overview of the exome sequencing data available in the UK Biobank.
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This is a summary of: Shekari, S. et al. Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. Nat. Med. https://doi.org/10.1038/s41591-023-02405-5 (2023).
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Genes linked to premature ovarian insufficiency show no pathogenicity in the general population. Nat Med 29, 1617–1618 (2023). https://doi.org/10.1038/s41591-023-02413-5
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DOI: https://doi.org/10.1038/s41591-023-02413-5
