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Nature Research, Nature Genetics, 3(44), p. 260-268

DOI: 10.1038/ng.1051



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

Journal article published in 2012 by Lisette Stolk, Perry Jr, Perry Jrb, John R. B. Perry, Chasman Di, Daniel I. Chasman, Chunyan He, He Cy, Massimo Mangino, Patrick Sulem, Maja Barbalic, Byrne Em, Linda Broer, Enda M. Byrne, Florian Ernst and other authors.
This paper is available in a repository.
This paper is available in a repository.

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To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.