Taal, H Rob; Pourcain, Beate St; Thiering, Elisabeth; Das, Shikta; Mook-Kanamori, Dennis O; Warrington, Nicole M; Kaakinen, Marika; Kreiner-Møller, Eskil; Bradfield, Jonathan P; Freathy, Rachel M; +78 more... Geller, Frank; Guxens, Mònica; Cousminer, Diana L; Kerkhof, Marjan; Timpson, Nicholas J; Ikram, M Arfan; Beilin, Lawrence J; Bønnelykke, Klaus; Buxton, Jessica L; Charoen, Pimphen; Chawes, Bo Lund Krogsgaard; Eriksson, Johan; Evans, David M; Hofman, Albert; Kemp, John P; Kim, Cecilia E; Klopp, Norman; Lahti, Jari; Lye, Stephen J; McMahon, George; Mentch, Frank D; Müller, Martina; O'Reilly, Paul F; Prokopenko, Inga; Rivadeneira, Fernando; Steegers, Eric AP; Sunyer, Jordi; Tiesler, Carla; Yaghootkar, Hanieh; Cohorts for Heart and Aging Research in Genetic Epidemiology (CH; Breteler, Monique MB; Debette, Stephanie; Fornage, Myriam; Gudnason, Vilmundur; Launer, Lenore J; van der Lugt, Aad; Mosley, Thomas H; Seshadri, Sudha; Smith, Albert V; Vernooij, Meike W; Early Genetics & Lifecourse Epidemiology (EAGLE) consortium; Blakemore, Alexandra If; Chiavacci, Rosetta M; Feenstra, Bjarke; Fernandez-Benet, Julio; Grant, Struan FA; Hartikainen, Anna-Liisa; van der Heijden, Albert J; Iñiguez, Carmen; Lathrop, Mark; McArdle, Wendy L; Mølgaard, Anne; Newnham, John P; Palmer, Lyle J; Palotie, Aarno; Pouta, Annneli; Ring, Susan M; Sovio, Ulla; Standl, Marie; Uitterlinden, Andre G; Wichmann, H-Erich; Vissing, Nadja Hawwa; DeCarli, Charles; van Duijn, Cornelia M; McCarthy, Mark I; Koppelman, Gerard H; Estivill, Xavier; Hattersley, Andrew T; Melbye, Mads; Bisgaard, Hans; Pennell, Craig E; Widen, Elisabeth; Hakonarson, Hakon; Smith, George Davey; Heinrich, Joachim; Jarvelin, Marjo-Riitta; Early Growth Genetics (EGG) Consortium; Jaddoe, Vincent WV; (2012) Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature genetics, 44 (5). pp. 532-538. ISSN 1061-4036 DOI: https://doi.org/10.1038/ng.2238
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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.
Item Type | Article |
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Faculty and Department | Faculty of Epidemiology and Population Health > Dept of Non-Communicable Disease Epidemiology |
PubMed ID | 22504419 |
ISI | 303416300013 |
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