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Nature Research, Nature Genetics, 12(42), p. 1077-1085

DOI: 10.1038/ng.714



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

Journal article published in 2010 by Sophie W. van Wingerden, Pio d’Adamo, Joyve B. Jbj van Meurs, McArdle Wl, Zhuang Wv, Jenny A. Visser, Sophie H. van Wingerden, Jing Hua Zhao, Nicole M. Warrington, Shelia Ulivi, Lina Zgaga, Sh H. Van Wingerden, Pio d'Adamo, Ulf de Faire, Eco J. C. de Geus and other authors.
This paper is available in a repository.
This paper is available in a repository.

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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.