Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
Year: 2020
Type: article
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.
Source: UNC Libraries
DOI: 10.17615/zbd7-6y55
Authors: Perry, John R B, van Wingerden, Sophie, Ernst, Florian, Beckmann, Jacques S, Hottenga, Jouke-Jan, Boban, Mladen, Byrne, Enda M, Lauc, Lovorka Barac, Burri, Andrea, Esko, Tõnu, Broekmans, Frank J, Boerwinkle, Eric, Sulem, Patrick, Shin, So-Youn, Chasman, Daniel I, Bandinelli, Stefania, He, Chunyan, Gudbjartsson, Daniel F, Smith, Albert V, Zhuang, Wei V, Mangino, Massimo, Stolk, Lisette, Zhai, Guangju, Albrecht, Eva, Alizadeh, Behrooz Z, Broer, Linda, Barbalic, Maja, McArdle, Patrick F, Porcu, Eleonora, Kraft, Peter, Franceschini, Nora, Aspelund, Thor
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Funder: McKnight Foundation
OpenAlex ID: W4298161731