2012-05-01
Common variants at 12q15 and 12q24 are associated with infant head circumference
Publication
Publication
Nature Genetics , Volume 44 - Issue 5 p. 532- 538
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.
| Additional Metadata | |
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| doi.org/10.1038/ng.2238, hdl.handle.net/1765/54712 | |
| Nature Genetics | |
| Organisation | Department of Internal Medicine |
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Taal, R., St Pourcain, B., Thiering, E., Das, S., Mook-Kanamori, D., Warrington, N., … Jaddoe, V. (2012). Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44(5), 532–538. doi:10.1038/ng.2238 |
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