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-Møller, Jonathan P Bradfield, Rachel M Freathy, Frank Geller, Mònica Guxens, Diana L Cousminer, Marjan Kerkhof, Nicholas J Timpson, M Arfan Ikram, Lawrence J Beilin, Klaus Bønnelykke, 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 Müller-Nurasyid, Paul F O'Reilly, Inga Prokopenko, Fernando Rivadeneira, Eric A P Steegers, Jordi Sunyer, Carla Tiesler, Hanieh Yaghootkar, Monique M B Breteler, Charles Decarli, Monique M B Breteler, Stéphanie Debette, Myriam Fornage, Vilmundur Gudnason, Lenore J Launer, Wendy L McArdle, Lyle J Palmer, Susan M Ring, George Davey Smith, Cohorts for Heart and Aging Research in Genetic Epidemiology Consortium

Research output: Contribution to journalArticle (Academic Journal)peer-review

1 Citation (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 × 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 × 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height, their effects on infant head circumference were largely independent of height (P = 3.8 × 10(-7) for rs7980687 and P = 1.3 × 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 × 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume, Parkinson's disease and other neurodegenerative diseases, indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
Original languageEnglish
Pages (from-to)532-538
Number of pages7
JournalNature Genetics
Issue number5
Publication statusPublished - 15 Apr 2012


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