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

Nat Genet. 2012 Apr 15;44(5):532-538. doi: 10.1038/ng.2238.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 12 / genetics*
  • European Continental Ancestry Group / genetics*
  • Female
  • Genetic Loci
  • Genetic Markers
  • Genome-Wide Association Study
  • Head / growth & development*
  • Head / pathology*
  • Humans
  • Infant
  • Male
  • Meta-Analysis as Topic
  • Polymorphism, Single Nucleotide / genetics*
  • Pregnancy
  • Pregnancy Complications / etiology*
  • Pregnancy Complications / pathology*

Substances

  • Genetic Markers