Common variants at 12q15 and 12q24 are associated with infant head circumference

Taal, H. Rob and St Pourcain, Beate and Thiering, Elisabeth and Das, Shikta and Mook-Kanamori, Dennis O. and Warrington, Nicole M. and Kaakinen, Marika and Kreiner-Møller, Eskil and Bradfield, Jonathan P. and Freathy, Rachel M. and Geller, Frank and Guxens, Mònica and Cousminer, Diana L. and Kerkhof, Marjan and Timpson, Nicholas J. and Ikram, M. Arfan and Beilin, Lawrence J. and Bønnelykke, Klaus and Buxton, Jessica L. and Charoen, Pimphen and Chawes, Bo Lund Krogsgaard and Eriksson, Johan and Evans, David M. and Hofman, Albert and Kemp, John P. and Kim, Cecilia E. and Klopp, Norman and Lahti, Jari and Lye, Stephen J. and McMahon, George and Mentch, Frank D. and Müller-Nurasyid, Martina and O'Reilly, Paul F. and Prokopenko, Inga and Rivadeneira, Fernando and Steegers, Eric A. P. and Sunyer, Jordi and Tiesler, Carla and Yaghootkar, Hanieh and Fornage, Myriam and Smith, Albert V. and Seshadri, Sudha and Schmidt, Reinhold and Debette, Stéphanie and Vrooman, Henri A. and Sigurdsson, Sigurdur and Ropele, Stefan and Coker, Laura H. and Longstreth, W. T. and Niessen, Wiro J. and DeStefano, Anita L. and Beiser, Alexa and Zijdenbos, Alex P. and Struchalin, Maksim and Jack, Clifford R. and Nalls, Mike A. and Au, Rhoda and Gudnason, Haukur and van der Lugt, Aad and Harris, Tamara B. and Meeks, William M. and Vernooij, Meike W. and van Buchem, Mark A. and Catellier, Diane and Gudnason, Vilmundur and Windham, B. Gwen and Wolf, Philip A. and van Duijn, Cornelia M. and Mosley, Thomas H. and Schmidt, Helena and Launer, Lenore J. and Breteler, Monique M. B. and DeCarli, Charles and Mosley, Thomas and Ang, Wei and van Beijsterveldt, Toos and Bergen, Nienke and Benke, Kelly and Berry, Diane and Coin, Lachlan and Elliott, Paul and Frayling, Tim and Gaillard, Romy and Groen-Blokhuis, Maria and Hadley, Dexter and Hottenga, Jouke Jan and Huikari, Ville and Hypponen, Elina and Kowgier, Matthew and Lawlor, Debbie A. and Lewin, Alex and Lindgren, Cecilia and Marsh, Julie and Middeldorp, Christel and Millwood, Iona and Nivard, Michel and Palmer, Lyle J. and Rodriguez, Alina and Sebert, Sylvain and Standl, Marie and Strachan, David P. and Uitterlinden, Andre G. and Valcárcel, Beatriz and White, Scott and Willemsen, Gonneke and Boomsma, Dorret I. and Grant, Struan F. A. and Hakonarson, Hakon and Hattersley, Andrew T. and Heinrich, Joachim and Jaddoe, Vincent W. V. and McCarthy, Mark I. and Pennell, Craig E. and Power, Chris and Widen, Elisabeth and Blakemore, Alexandra I. F. and Chiavacci, Rosetta M. and Feenstra, Bjarke and Fernandez-Banet, Julio and Hartikainen, Anna-Liisa and van der Heijden, Albert J. and Iñiguez, Carmen and Lathrop, Mark and McArdle, Wendy L. and Mølgaard, Anne and Newnham, John P. and Palotie, Aarno and Pouta, Annneli and Ring, Susan M. and Sovio, Ulla and Wichmann, H-Erich and Vissing, Nadja Hawwa and van Duijn, Cornelia M. and Koppelman, Gerard H. and Melbye, Mads and Bisgaard, Hans and Smith, George Davey and Adair, Linda S. and Atalay, Mustafa and Davis, Oliver S. P. and Flexeder, Claudia and Goh, Liang-Kee and Haworth, Claire M. A. and Hedebrand, Johannes and Hinney, Anke and Hirschhorn, Joel N. and Holloway, John W. and Holst, Claus and Horikoshi, Momoko and Kilpeläinen, Tuomas O. and Kirin, Mirna and Lakka, Hanna-Maaria and Lange, Leslie A. and Lehtimäki, Terho and Lindi, Virpi and Maggi, Reedik and Murray, Jeffrey C. and Nohr, Ellen Aagaard and Ntalla, Ioanna and Oken, Emily and Panoutsopoulou, Kalliope and Pararajasingham, Jennifer and Salem, Rany M. and Siitonen, Niina and Teo, Yik-Ying and Zeggini, Eleftheria and Cooper, Cyrus and Estivill, Xavier and Gillman, Matthew and Hocher, Berthold and Jarvelin, Marjo-Riitta and Lakka, Timo A. and Mohlke, Karen L. and Dedoussis, George V. and Ong, Ken K. and Pearson, Ewan R. and Price, Thomas S. and Raitakari, Olli T. and Saw, Seang-Mei and Scherag, Andre and Simell, Olli and Sørensen, Thorkild I. A. and Wilson, James F. (2012) Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44 (5). pp. 532-538. ISSN 1061-4036

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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 height1, 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 volume2, Parkinson's disease and other neurodegenerative diseases3, 4, 5, indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.

Keywords:Genetics, Brain size, Genetic variation, Genome-wide association studies, Neurodegeneration
Subjects:C Biological Sciences > C420 Human Genetics
Divisions:College of Social Science > School of Psychology
ID Code:22930
Deposited On:02 Aug 2016 12:13

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