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Nat Genet. 2012 Apr 15;44(5):532-538. doi: 10.1038/ng.2238.

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

Collaborators (208)

Adair LS, Ang W, Atalay M, van Beijsterveldt T, Bergen N, Benke K, Berry D, Bradfield JP, Charoen P, Coin L, Cousminer DL, Das S, Davis OS, Elliott P, Evans DM, Feenstra B, Flexeder C, Frayling T, Freathy RM, Gaillard R, Geller F, Groen-Blokhuis M, Goh LK, Guxens M, Haworth CM, Hadley D, Hedebrand J, Hinney A, Hirschhorn JN, Holloway JW, Holst C, Hottenga JJ, Horikoshi M, Huikari V, Hypponen E, Iñiguez C, Kaakinen M, Kilpeläinen TO, Kirin M, Kowgier M, Lakka HM, Lange LA, Lawlor DA, Lehtimäki T, Lewin A, Lindgren C, Lindi V, Maggi R, Marsh J, Middeldorp C, Millwood I, Mook-Kanamori DO, Murray JC, Nivard M, Nohr EA, Ntalla I, Oken E, O'Reilly PF, Palmer LJ, Panoutsopoulou K, Pararajasingham J, Prokopenko I, Rodriguez A, Salem RM, Sebert S, Siitonen N, Sovio U, St Pourcain B, Strachan DP, Sunyer J, Taal HR, Teo YY, Thiering E, Tiesler C, Uitterlinden AG, Valcárcel B, Warrington NM, White S, Willemsen G, Yaghootkar H, Zeggini E, Boomsma DI, Cooper C, Estivill X, Gillman M, Grant SF, Hakonarson H, Hattersley AT, Heinrich J, Hocher B, Jaddoe VW, Jarvelin MR, Lakka TA, McCarthy MI, Melbye M, Mohlke KL, Dedoussis GV, Ong KK, Pearson ER, Pennell CE, Price TS, Power C, Raitakari OT, Saw SM, Scherag A, Simell O, Timpson NJ, Widen E, Wilson JF, Ang W, van Beijsterveldt T, Bergen N, Benke K, Berry D, Bradfield JP, Charoen P, Coin L, Cousminer DL, Das S, Elliott P, Evans DM, Frayling T, Freathy RM, Gaillard R, Groen-Blokhuis M, Guxens M, Hadley D, Hottenga JJ, Huikari V, Hypponen E, Kaakinen M, Kowgier M, Lawlor DA, Lewin A, Lindgren C, Marsh J, Middeldorp C, Millwood I, Mook-Kanamori DO, Nivard M, O'Reilly PF, Palmer LJ, Prokopenko I, Rodriguez A, Sebert S, Sovio U, St Pourcain B, Standl M, Strachan DP, Sunyer J, Taal HR, Thiering E, Tiesler C, Uitterlinden AG, Valcárcel B, Warrington NM, White S, Willemsen G, Yaghootkar H, Boomsma DI, Estivill X, Grant SF, Hakonarson H, Hattersley AT, Heinrich J, Jaddoe VW, Jarvelin MR, McCarthy MI, Pennell CE, Power C, Timpson NJ, Widen E, Ikram MA, Fornage M, Smith AV, Seshadri S, Schmidt R, Debette S, Vrooman HA, Sigurdsson S, Ropele S, Coker LH, Longstreth WT Jr, Niessen WJ, DeStefano AL, Beiser A, Zijdenbos AP, Struchalin M, Jack CR Jr, Nalls MA, Au R, Hofman A, Gudnason H, van der Lugt A, Harris TB, Meeks WM, Vernooij MW, van Buchem MA, Catellier D, Gudnason V, Windham BG, Wolf PA, van Duijn CM, Mosley TH Jr, Schmidt H, Launer LJ, Breteler MM, DeCarli C.

Author information

1
Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
2
Department of Paediatrics, Erasmus Medical Center, Rotterdam, The Netherlands.
3
The Generation R Study Group, Erasmus Medical Center, Rotterdam, The Netherlands.
4
MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK.
5
Institute of Epidemiology I, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
6
Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, UK.
7
Weill Cornell Medical College - Qatar, Doha, Qatar.
8
School of Women's and Infants' Health, The University of Western Australia, Perth, Australia.
9
Samuel Lunenfeld Research Institute, University of Toronto, Toronto, Canada.
10
Institute of Health Sciences, University of Oulu, Finland.
11
Biocenter Oulu, University of Oulu, Finland.
12
Copenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, Denmark.
13
Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
14
Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.
15
Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
16
Center for Research in Environmental Epidemiology (CREAL), Barcelona, Catalonia, Spain.
17
Hospital del Mar Research Institute (IMIM), Barcelona, Catalonia, Spain.
18
CIBER Epidemiologia y Salud Pública (CIBERESP), Barcelona, Catalonia, Spain.
19
Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
20
Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
21
Department of Radiology, Erasmus Medical Center, Rotterdam, The Netherlands.
22
School of Medicine and Pharmacology, The University of Western Australia, Perth, Australia.
23
Department of Genomics of Common Disease, School of Public Health, Imperial College London.
24
Department of Tropical Hygiene, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.
25
National Institute for Health and Welfare, Helsinki, Finland.
26
Department of General Practice and Primary Health Care, University of Helsinki, Helsinki, Finland.
27
Folkhalsan Research Centre, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
28
Research Unit for Molecular Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
29
Hannover Unified Biobank, Hannover Medical School, Hannover, Germany.
30
Institute of Behavioural Sciences, University of Helsinki, Helsinki, Finland.
31
Institute of Medical Informatics, Biometry and Epidemiology, Chair of Epidemiology, Ludwig-Maximilians-Universität, Munich, Germany.
32
Institute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
33
Department of Medicine I, University Hospital Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany.
34
Department of Epidemiology and Biostatistics, Imperial College London, W2 1PG London, UK.
35
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
36
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
37
Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
38
Department of Obstetrics & Gynecology, Erasmus Medical Center, Rotterdam, The Netherlands.
39
Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain.
40
Dr Von Hauner Children's Hospital, Ludwig-Maximilians University Munich, Munich, Germany.
41
Department of Neurology, Boston University School of Medicine, Boston, MA, USA.
42
Institute of Molecular Medicine, Human Genetics Center and Division of Epidemiology, School of Public Health, University of Texas, Houston Health Sciences Center, Houston, TX, USA.
43
Icelandic Heart Association, Kopavogus, Iceland.
44
University of Iceland, Reykjavik, Iceland.
45
Laboratory of Epidemiology, Demography and Biometry, National Institute on Aging, National Institute of Health, Bethesda, MD, USA.
46
Department of Medicine (Geriatrics), University of Mississippi Medical Center, Jackson, MS, USA.
47
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom.
48
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
49
Department of Pediatrics, University of Pennsylvania, Philadelphia PA 19104, USA.
50
Institute of Clinical Medicine/Obstetrics and Gynecology, University of Oulu, Oulu, Finland.
51
Division of Environment and Health, Center for Public Health Research-CSISP, Valencia, Spain.
52
Centre National de Génotypage, Evry, France.
53
Foundation Jean Dausset, CEPH, Paris, France.
54
School of Social and Community Medicine, University of Bristol, Bristol, UK.
55
Genetic Epidemiology and Biostatistics Platform, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
56
Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
57
Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
58
Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
59
National Institute for Health and Welfare, Oulu, Finland, Biocenter Oulu, University of Oulu, Finland.
60
London School of Hygiene and Tropical Medicine, London, United Kingdom.
61
Department of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, CA, USA.
62
Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford, UK.
63
Department of Pediatric Pulmonology and Pediatric Allergology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
64
Genes and Disease Program, Center for Genomic Regulation (CRG-UPF), Barcelona, Catalonia, Spain.
65
Peninsula NIHR Clinical Research Facility, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.
66
Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, MRC Health Protection Agency (HPA) Centre for Environment and Health, Imperial College London.
#
Contributed equally

Erratum in

  • Nat Genet. 2013 June;45(6):713. Sørensen, Thorkild I A [removed].

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.

PMID:
22504419
PMCID:
PMC3773913
DOI:
10.1038/ng.2238
[Indexed for MEDLINE]
Free PMC Article

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