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Rare coding variants in DNA damage repair genes associated with timing of natural menopause

22 Dec 2021

Abstract excerpt

The age of menopause is associated with fertility and disease risk, and its genetic control is of great interest. We use whole-exome sequences from 132,370 women in the UK Biobank to test for associations between rare damaging variants and age at natural menopause. Rare damaging variants in five genes are significantly associated with menopause: CHEK2 (p = 3.3 × 10−51), DCLRE1A (p = 8.4 × 10−13), and HELB (p =...

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PMID: 35493704
DOI: 10.1016/j.xhgg.2021.100079

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