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|Title:||Common variants at 12q15 and 12q24 are associated with infant head circumference|
St Pourcain, B.
Arfan Ikram, M.
|Citation:||Nature Genetics, 2012; 44(5):532-538|
|Publisher:||Nature Publishing Group|
|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|
|Appears in Collections:||Translational Health Science publications|
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