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Type: Journal article
Title: Common variants at 12q15 and 12q24 are associated with infant head circumference
Author: Taal, H.
St Pourcain, B.
Thiering, E.
Das, S.
Mook-Kanamori, D.
Warrington, N.
Kaakinen, M.
Kreiner-Møller, E.
Bradfield, J.
Freathy, R.
Geller, F.
Guxens, M.
Cousminer, D.
Kerkhof, M.
Timpson, N.
Arfan Ikram, M.
Beilin, L.
Bønnelykke, K.
Buxton, J.
Charoen, P.
et al.
Citation: Nature Genetics, 2012; 44(5):532-538
Publisher: Nature Publishing Group
Issue Date: 2012
ISSN: 1061-4036
Statement of
H Rob Taal ... The Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium ... The Early Genetics, Lifecourse Epidemiology (EAGLE) Consortium ... Lyle J Palmer ... et al. for the Early Growth Genetics(EGG) Consortium
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.
Keywords: Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium; Early Genetics & Lifecourse Epidemiology (EAGLE) consortium; Early Growth Genetics (EGG) Consortium; Head; Chromosomes, Human, Pair 12; Humans; Pregnancy Complications; Genetic Markers; Pregnancy; Polymorphism, Single Nucleotide; Infant; European Continental Ancestry Group; Female; Male; Meta-Analysis as Topic; Genome-Wide Association Study; Genetic Loci
Rights: © 2012 Nature America, Inc. All rights reserved
RMID: 0020137871
DOI: 10.1038/ng.2238
Appears in Collections:Translational Health Science publications

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