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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-Moller, Eskil; Bradfield, Jonathan P.; & Freathy, Rachel M., et al. (2012). Common Variants at 12q15 and 12q24 Are Associated with Infant Head Circumference. Nature Genetics, 44(5), 532-538. PMCID: PMC3773913


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 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 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 x 10(-7) for rs7980687 and P = 1.3 x 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 x 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.


Reference Type

Journal Article

Year Published


Journal Title

Nature Genetics


Taal, H. Rob
St. Pourcain, Beate
Thiering, Elisabeth
Das, Shikta
Mook-Kanamori, Dennis O.
Warrington, Nicole M.
Kaakinen, Marika
Kreiner-Moller, Eskil
Bradfield, Jonathan P.
Freathy, Rachel M.
Geller, Frank
Guxens, Monica
Cousminer, Diana L.
Kerkhof, Marjan
Timpson, Nicholas J.
Ikram, M. Arfan
Beilin, Lawrence J.
Bonnelykke, Klaus
Buxton, Jessica L.
Charoen, Pimphen
Chawes, Bo Lund Krogsgaard
Eriksson, Johan G.
Evans, David M.
Hofman, Albert
Kemp, John P.
Kim, Cecilia E.
Klopp, Norman
Lahti, Jari
Lye, Stephen J.
McMahon, George
Mentch, Frank D.
Muller-Nurasyid, Martina
O'Reilly, Paul F.
Prokopenko, Inga
Rivadeneira, Fernando
Steegers, Eric A. P.
Sunyer, Jordi
Tiesler, Carla M. T.
Yaghootkar, Hanieh
The Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium,
Breteler, Monique M. B.
Debette, Stephanie
Fornage, Myriam
Gudnason, Vilmundur G.
Launer, Lenore J.
van der Lugt, Aad
Mosley, Thomas H., Jr.
Seshadri, Sudha
Smith, Albert V.
Vernooij, Meike W.
The Early Genetics & Lifecourse Epidemiology (EAGLE) Consortium,
Blakemore, Alexandra I. F.
Chiavacci, Rosetta M.
Feenstra, Bjarke
Fernandez-Banet, Julio
Grant, Struan F. A.
Hartikainen, Anna-Liisa
van der Heijden, Albert J.
Iniguez, Carmen
Lathrop, Mark
McArdle, Wendy L.
Molgaard, Anne
Newnham, John P.
Palmer, Lyle J.
Palotie, Aarno
Pouta, Anneli
Ring, Susan M.
Sovio, Ulla
Standl, Marie
Uitterlinden, Andre G.
Wichmann, H. Erich
Vissing, Nadja Hawwa
DeCarli, Charles S.
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
Jaddoe, Vincent W. V., for the Early Growth Genetics (EGG) Consortium [
Linda S. Adair, Member