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

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

Full content URL: http://dx.doi.org/10.1038/ng.2238

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Item Type:Article
Item Status:Live Archive

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 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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