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

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• dc.contributor.author Taal, H. Rob
• dc.contributor.author Guxens Junyent, Mònica
• dc.contributor.author Sunyer Deu, Jordi
• dc.contributor.author Estivill, Xavier, 1955-
• dc.contributor.author Jaddoe, Vincent W. V.
• dc.date.accessioned 2019-04-08T11:29:56Z
• dc.date.available 2019-04-08T11:29:56Z
• dc.date.issued 2012
• dc.description.abstract 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.
• dc.description.sponsorship Major funding for the research in this paper is as follows: Academy of Finland (project grants 104781, 120315, 129269, 1114194 and Center of Excellence in Complex Disease Genetics); Canadian Institutes of Health Research (grant MOP 82893); The European Community’s Seventh Framework Programme (FP7/2007-2013), ENGAGE project, grant agreement HEALTH-F4-2007-201413; Instituto de Salud Carlos III (FIS PI081151, and PS09/00432); Medical Research Council UK (G0500539, G0600331, PrevMetSyn/Salve/MRC, G0600705); National Health and Medical Research Council of Australia (ID 403981 and ID 003209); Netherlands Organisation for Scientific Research (NOW)/Netherlands Organisation for Health Reseacrh and Development (ZonMw) (grants SPI 56-464-14192, 904-61-090, 904-61-193, 480-04-004, 400-05-717); NHLBI (grant 5R01HL087679-02 through the STAMPEED program (1RL1MH083268-01)); NIH (grant 1R01HD056465-01A1); University of Leipzig; Wellcome Trust (project grant GR069224); Western Australian DNA Bank; Western Australian Genetic Epidemiology Resource; ZonMW (grant 21000074). Personal funding is as follows: H.R.T by the Dutch Kidney Foundation (C08.2251) , S.D. by the Medical Research Council UK (G0500539, PrevMetSyn, and PS0476), R.M.F by a Sir Henry Wellcome Postdoctoral Fellowship (Wellcome Trust grant: 085541/Z/08/Z), D.M.E. by a Medical Research Council New Investigator Award (MRC G0800582 to D.M.E.), J.P.K. by a Wellcome Trust 4-year PhD studentship (WT083431MA), I.P. and J.F.B. in part supported by the European Community’s ENGAGE grant HEALTH-F4-2007-201413. A.T.H. is employed as a core member of the Peninsula NIHR Clinical Research Facility, V.W.V.J by the Netherlands Organization for Health Research (ZonMw 90700303, 916.10159)
• dc.format.mimetype application/pdf
• dc.identifier.citation Taal HR, Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM et al. Common variants at 12q15 and 12q24 are associated with infant head circumference. Nat Genet. 2012 Apr 15;44(5):532-8. DOI: 10.1038/ng.2238
• dc.identifier.doi http://dx.doi.org/10.1038/ng.2238
• dc.identifier.issn 1061-4036
• dc.identifier.uri http://hdl.handle.net/10230/37064
• dc.language.iso eng
• dc.publisher Nature Research
• dc.relation.ispartof Nature Genetics. 2012 Apr 15;44(5):532-8
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/201413
• dc.rights © Springer Nature Publishing AG.Taal HR, Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM et al. Common variants at 12q15 and 12q24 are associated with infant head circumference. Nat Genet. 2012 Apr 15; 44(5): 532-538. http://dx.doi.org/10.1038/ng.2238
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.subject.other Cromosomes humans
• dc.subject.other Cap -- Malalties
• dc.subject.other Cap -- Creixement
• dc.subject.other Polimorfisme genètic
• dc.subject.other Embaràs -- Complicacions
• dc.title Common variants at 12q15 and 12q24 are associated with infant head circumference
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/acceptedVersion