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

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  • 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
  • Daniel F Gudbjartsson
  • Tõnu Esko
  • Bjarke Feenstra
  • Jouke-Jan Hottenga
  • Daniel L Koller
  • Zoltán Kutalik
  • Peng Lin
  • Massimo Mangino
  • Mara Marongiu
  • Patrick F McArdle
  • Albert V Smith
  • Lisette Stolk
  • Sophie H van Wingerden
  • Jing Hua Zhao
  • Eva Albrecht
  • Tanguy Corre
  • Erik Ingelsson
  • Caroline Hayward
  • Patrik K E Magnusson
  • Erin N Smith
  • Shelia Ulivi
  • Nicole M Warrington
  • Lina Zgaga
  • Helen Alavere
  • Najaf Amin
  • Thor Aspelund
  • Stefania Bandinelli
  • Inês Barroso
  • Gerald S Berenson
  • Sven Bergmann
  • Hannah Blackburn
  • Eric Boerwinkle
  • Julie E Buring
  • Fabio Busonero
  • Harry Campbell
  • Stephen J Chanock
  • Pau Navarro
  • Igor Rudan
  • James F Wilson
  • Alan F Wright
  • GIANT Consortium

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    Rights statement: Published in final edited form as: Nat Genet. 2010 December ; 42(12): 1077–1085. doi:10.1038/ng.714.

    Accepted author manuscript, 472 KB, PDF document

Original languageEnglish
Pages (from-to)1077-85
Number of pages9
JournalNature Genetics
Issue number12
Publication statusPublished - Dec 2010


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 x 10(-60)) and 9q31.2 (P = 2.2 x 10(-33)), we identified 30 new menarche loci (all P < 5 x 10(-8)) and found suggestive evidence for a further 10 loci (P < 1.9 x 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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