Common variants at 12q15 and 12q24 are associated with infant head circumference

H. Rob Taal, Beate St Pourcain, Elisabeth Thiering, Shikta Das, Dennis O. Mook-Kanamori, Nicole M. Warrington, Marika Kaakinen, Eskil Kreiner-Moller, Jonathan P. Bradfield, Rachel M. Freathy, Frank Geller, Monica Guxens, Diana L. Cousminer, Marjan Kerkhof, Nicholas J. Timpson, M. Arfan Ikram, Lawrence J. Beilin, Klaus Bonnelykke, Jessica L. Buxton, Pimphen CharoenBo Lund Krogsgaard Chawes, Johan Eriksson, David M. Evans, Albert Hofman, John P. Kemp, Cecilia E. Kim, Norman Klopp, Jari Lahti, Stephen J. Lye, George McMahon, Frank D. Mentch, Martina Mueller-Nurasyid, Paul F. O'Reilly, Inga Prokopenko, Fernando Rivadeneira, Eric A. P. Steegers, Jordi Sunyer, Carla Tiesler, Hanieh Yaghootkar, Monique M. B. Breteler, Stephanie Debette, Myriam Fornage, Vilmundur Gudnason, Lenore J. Launer, Aad van der Lugt, Thomas H. Mosley, Sudha Seshadri, Albert V. Smith, Meike W. Vernooij, Ewan R. Pearson, Early Genetics Lifecourse Epidemio, Early Growth Genetics EGG Consorti, Cohorts Heart Aging Res Genetic Ep

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    93 Citations (Scopus)


    To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.</p>
    Original languageEnglish
    Pages (from-to)532-538
    Number of pages9
    JournalNature Genetics
    Issue number5
    Publication statusPublished - May 2012


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