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

Journal article

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.

Authors: Taal, H; St Pourcain, B; Thiering, E; Das, S; Mook-Kanamori, DO

• Publication status: Published
• Journal: Nature genetics
• Volume: 44
• Issue: 5
• Pages: 532-538
• Publication date: 2012-05-01
• DOI: 10.1038/ng.2238
• EISSN: 1546-1718
• ISSN: 1061-4036
• Language: English
• Keywords: Genome-Wide Association Study; Chromosomes, Human, Pair 12; Female; Cohorts for Heart and Aging Research in Genetic Epidemiology Consortium; European Continental Ancestry Group; Pregnancy; Male; Early Growth Genetics Consortium; Pregnancy Complications; Genetic Markers; Infant; Meta-Analysis as Topic; Early Genetics and Lifecourse Epidemiology Consortium; Polymorphism, Single Nucleotide; Head; Humans; Genetic Loci