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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
Journal article   Open access   Peer reviewed

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Cathy E Elks, John R.B Perry, Patrick Sulem, Daniel I Chasman, Nora Franceschini, Chunyan He, Kathryn L Lunetta, Jenny A Visser, Enda M Byrne, Diana L Cousminer, …
Nature genetics, Vol.42(12), pp.1077-1085
12/2010
DOI: 10.1038/ng.714
PMCID: PMC3140055
PMID: 21102462
url
https://www.research.ed.ac.uk/en/publications/18626b31-d056-4fee-b1f4-295cf178d563View
Open Access

Abstract

To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 × 10−60) and 9q31.2 (P = 2.2 × 10−33), we identified 30 new menarche loci (all P < 5 × 10−8) and found suggestive evidence for a further 10 loci (P < 1.9 × 10−6). The new loci included four previously associated with body mass index (in or near FTO, SEC16B, TRA2B and TMEM18), three in or near other genes implicated in energy homeostasis (BSX, CRTC1 and MCHR2) and three in or near genes implicated in hormonal regulation (INHBA, PCSK2 and RXRG). Ingenuity and gene-set enrichment pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing.

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