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, Breteler, Monique M. B., Debette, Stéphanie, Fornage, Myriam, Gudnason, Vilmundur, Launer, Lenore J., van der Lugt, Aad, Mosley Jr., Thomas H., Seshadri, Sudha, Smith, Albert V., Vernooij, Meike W., Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Grant, Struan F. A., 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, Jaddoe, Vincent W. V., The Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE ) Consortium, The Early Genetics & Lifecourse Epidemiology (EAGLE ) Consortium, Coin, Lachlan and Middeldorp, Christel (2012) Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44 5: 532-538. doi:10.1038/ng.2238


Author 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
Breteler, Monique M. B.
Debette, Stéphanie
Fornage, Myriam
Gudnason, Vilmundur
Launer, Lenore J.
van der Lugt, Aad
Mosley Jr., Thomas H.
Seshadri, Sudha
Smith, Albert V.
Vernooij, Meike W.
Blakemore, Alexandra I. F.
Chiavacci, Rosetta M.
Feenstra, Bjarke
Fernandez-Banet, Julio
Grant, Struan F. A.
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
Jaddoe, Vincent W. V.
The Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE ) Consortium
The Early Genetics & Lifecourse Epidemiology (EAGLE ) Consortium
Coin, Lachlan
Middeldorp, Christel
Title Common variants at 12q15 and 12q24 are associated with infant head circumference
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
ISBN 1546-1718
Publication date 2012-05-01
Year available 2012
Sub-type Article (original research)
DOI 10.1038/ng.2238
Open Access Status Not yet assessed
Volume 44
Issue 5
Start page 532
End page 538
Total pages 7
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Language eng
Subject 1311 Genetics
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 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(1), 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(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
Formatted 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.
Keyword Genetics & Heredity
Genetics & Heredity
GENETICS & HEREDITY
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID 104781
MOP 82893
HEALTH-F4-2007-201413
FIS PI081151
G0500539
403981
SPI 56-464-14192
5R01HL087679-02
1R01HD056465-01A1
GR069224
21000074
C08.2251
G0500539
MRC G0800582
90700303
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
Institute for Molecular Bioscience - Publications
UQ Diamantina Institute Publications
 
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