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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 publication




Journal article


Nature genetics

Publication Date





532 - 538


Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.


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