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Taal, HR; St Pourcain, B; Thiering, E; Das, S; Mook-Kanamori, DO; Warrington, NM; Kaakinen, M; Kreiner-Møller, E; Bradfield, JP; Freathy, RM; Geller, F; Guxens, M; Cousminer, DL; Kerkhof, M; Timpson, NJ; Ikram, MA; Beilin, LJ; Bønnelykke, K; Buxton, JL; Charoen, P; Chawes, BL; Eriksson, J; Evans, DM; Hofman, A; Kemp, JP; Kim, CE; Klopp, N; Lahti, J; Lye, SJ; McMahon, G; Mentch, FD; Müller-Nurasyid, M; O'Reilly, PF; Prokopenko, I; Rivadeneira, F; Steegers, EA; Sunyer, J; Tiesler, C; Yaghootkar, H; Cohorts for Heart and Aging Research in Genetic Epidemiology Consortium; Breteler, MM; Decarli, C; Breteler, MM; Debette, S; Fornage, M; Gudnason, V; Launer, LJ; van der Lugt, A; Mosley, TH; Seshadri, S; Smith, AV; Vernooij, MW; Early Genetics & Lifecourse Epidemiology Consortium; Blakemore, AI; Chiavacci, RM; Feenstra, B; Fernandez-Banet, J; Grant, SF; Hartikainen, AL; van der Heijden, AJ; Iñiguez, C; Lathrop, M; McArdle, WL; Mølgaard, A; Newnham, JP; Palmer, LJ; Palotie, A; Pouta, A; Ring, SM; Sovio, U; Standl, M; Uitterlinden, AG; Wichmann, HE; Vissing, NH; DeCarli, C; van Duijn, CM; McCarthy, MI; Koppelman, GH; Estivill, X; Hattersley, AT; Melbye, M; Bisgaard, H; Pennell, CE; Widen, E; Hakonarson, H; Smith, GD; Heinrich, J; Jarvelin, MR; Jaddoe, VW; Early Growth Genetics Consortium.
Common variants at 12q15 and 12q24 are associated with infant head circumference.
Nat Genet. 2012; 44(5):532-538
Doi: 10.1038/ng.2238
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- Co-Autor*innen der Med Uni Graz
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Ropele Stefan
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Schmidt Helena
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Schmidt Reinhold
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
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Chromosomes, Human, Pair 12 - genetics
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European Continental Ancestry Group - genetics
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Female -
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Genetic Loci -
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Genetic Markers -
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Genome-Wide Association Study -
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Head - growth & development
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Humans -
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Infant -
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Male -
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Meta-Analysis as Topic -
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Polymorphism, Single Nucleotide - genetics
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Pregnancy -
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Pregnancy Complications - etiology