Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency
Authors' conclusion
Collectively, our results suggest that, for the vast majority of women, POI is not caused by autosomal dominant variants either in genes previously reported or currently evaluated in clinical diagnostic panels.
Study context
- Population
- Women in the UK Biobank with exome sequence data; 2,231 (1.14%) reported natural menopause <40 yearsUK Biobank
- Participants
- 104,733 women
- Outcome
- Penetrance of variants in ≈100 previously reported POI genes
Methodological detailsexome sequence data, UK Biobank
- Exome sequence data
- UK Biobank
Main finding
As reported in the abstract
Penetrance of heterozygous variants in reported POI genes
Protein-truncating variants found in reproductively healthy women
99.9%
13,699 out of 13,708
Further findings
Haploinsufficiency effects on age at menopause
Years
- TWNK: earlier menopause, P = 1.59 × 10-6
- 1.54
- SOHLH2: earlier menopause, P = 1.03 × 10-4
- 3.48
Original publication
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. Nat Med. Published 22 June 2023. doi:10.
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