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, NF?B signalling and mitochondrial dysfunction as biological processes related to timing of menopause.

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

Porcu E;Lai S;Marongiu M;Toniolo D;Crisponi L;Sanna S;Uda M;
2012

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, NF?B signalling and mitochondrial dysfunction as biological processes related to timing of menopause.
2012
Istituto di Genetica Molecolare "Luigi Luca Cavalli Sforza"
Istituto di Ricerca Genetica e Biomedica - IRGB
meta-analysis
menopause
HapMap
SNPs
genome-wide association studies
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/243239
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