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Common variants at 12q15 and 12q24 are associated with infant head circumference
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2012 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 44, no 5, p. 532-538Article in journal (Refereed) Published
Abstract [en]

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 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 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 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.

Place, publisher, year, edition, pages
2012. Vol. 44, no 5, p. 532-538
Keywords [en]
article; body height; brain growth; child; chromosome 12q; chromosome 12q15; chromosome 12q24; degenerative disease; disease association; female; gene locus; genetic association; genetic variability; head circumference; human; infant; infant head circumference; male; meta analysis; Parkinson disease; preschool child; priority journal; single nucleotide polymorphism
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Medical Genetics
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URN: urn:nbn:se:miun:diva-16877DOI: 10.1038/ng.2238ISI: 000303416300013Scopus ID: 2-s2.0-84860324077OAI: oai:DiVA.org:miun-16877DiVA, id: diva2:556624
Available from: 2012-09-25 Created: 2012-08-29 Last updated: 2018-01-12Bibliographically approved

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Rodriguez, Alina

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