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https://hdl.handle.net/2440/88617
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Type: | Journal article |
Title: | Common variants at 12q15 and 12q24 are associated with infant head circumference |
Author: | Taal, H. St Pourcain, B. Thiering, E. Das, S. Mook-Kanamori, D. Warrington, N. Kaakinen, M. Kreiner-Møller, E. Bradfield, J. Freathy, R. Geller, F. Guxens, M. Cousminer, D. Kerkhof, M. Timpson, N. Arfan Ikram, M. Beilin, L. Bønnelykke, K. Buxton, J. Charoen, P. et al. |
Citation: | Nature Genetics, 2012; 44(5):532-538 |
Publisher: | Nature Publishing Group |
Issue Date: | 2012 |
ISSN: | 1061-4036 1546-1718 |
Statement of Responsibility: | H Rob Taal ... The Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium ... The Early Genetics, Lifecourse Epidemiology (EAGLE) Consortium ... Lyle J Palmer ... et al. for the Early Growth Genetics(EGG) Consortium |
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. |
Keywords: | 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 Female Male Meta-Analysis as Topic Genome-Wide Association Study Genetic Loci White People |
Rights: | © 2012 Nature America, Inc. All rights reserved |
DOI: | 10.1038/ng.2238 |
Published version: | http://dx.doi.org/10.1038/ng.2238 |
Appears in Collections: | Aurora harvest 2 Translational Health Science publications |
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