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Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

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2012

Year

Lisette Stolk, John R. B. Perry, Daniel I. Chasman, Chanyi He, Massimo Mangino, Patrick Sulem, Maja Barbalić, Linda Broer, Enda M. Byrne, Florian Ernst,
MURAL - Maynooth University Research Archive Library (National University of Ireland, Maynooth)

Abstract

To identify novel loci for age at natural menopause, we performed a meta-analysis of 22 genome-wide association studies in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 new age at natural menopause loci (P < 5 × 10−8). The new loci included genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG, PRIM1) and immune function (IL11, NLRP11, BAT2). Gene-set enrichment pathway analyses using the full GWAS dataset identified exodeoxyribonuclease, NFκB signalling and mitochondrial dysfunction as biological processes related to timing of menopause.