Journal article
Common variants at 12q15 and 12q24 are associated with infant head circumference
Nature genetics, Vol.44(5), pp.532-538
04/15/2012
DOI: 10.1038/ng.2238
PMCID: PMC3773913
PMID: 22504419
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.
Details
- Title: Subtitle
- Common variants at 12q15 and 12q24 are associated with infant head circumference
- Creators
- H Rob Taal - The Generation R Study Group, Erasmus Medical Center, Rotterdam, The NetherlandsBeate St Pourcain - MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UKElisabeth Thiering - Institute of Epidemiology I, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, GermanyShikta Das - Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, UKDennis O Mook-Kanamori - Weill Cornell Medical College - Qatar, Doha, QatarNicole M Warrington - Samuel Lunenfeld Research Institute, University of Toronto, Toronto, CanadaMarika Kaakinen - Biocenter Oulu, University of Oulu, FinlandEskil Kreiner-Møller - Copenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, DenmarkJonathan P Bradfield - Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USARachel M Freathy - Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UKFrank Geller - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, DenmarkMònica Guxens - CIBER Epidemiologia y Salud Pública (CIBERESP), Barcelona, Catalonia, SpainDiana L Cousminer - Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, FinlandMarjan Kerkhof - Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The NetherlandsNicholas J Timpson - MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UKM Arfan Ikram - Department of Radiology, Erasmus Medical Center, Rotterdam, The NetherlandsLawrence J Beilin - School of Medicine and Pharmacology, The University of Western Australia, Perth, AustraliaKlaus Bønnelykke - Copenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, DenmarkJessica L Buxton - Department of Genomics of Common Disease, School of Public Health, Imperial College LondonPimphen Charoen - Department of Tropical Hygiene, Faculty of Tropical Medicine, Mahidol University, Bangkok, ThailandBo Lund Krogsgaard Chawes - Copenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, DenmarkJohan Eriksson - Folkhalsan Research Centre, Biomedicum Helsinki, University of Helsinki, Helsinki, FinlandDavid M Evans - MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UKAlbert Hofman - The Generation R Study Group, Erasmus Medical Center, Rotterdam, The NetherlandsJohn P Kemp - MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UKCecilia E Kim - Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USANorman Klopp - Hannover Unified Biobank, Hannover Medical School, Hannover, GermanyJari Lahti - Institute of Behavioural Sciences, University of Helsinki, Helsinki, FinlandStephen J Lye - Samuel Lunenfeld Research Institute, University of Toronto, Toronto, CanadaGeorge McMahon - MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UKFrank D Mentch - Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USAMartina Müller - Department of Medicine I, University Hospital Grosshadern, Ludwig-Maximilians-Universität, Munich, GermanyPaul F O'Reilly - Department of Epidemiology and Biostatistics, Imperial College London, W2 1PG London, UKInga Prokopenko - Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UKFernando Rivadeneira - Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The NetherlandsEric A P Steegers - Department of Obstetrics & Gynecology, Erasmus Medical Center, Rotterdam, The NetherlandsJordi Sunyer - Pompeu Fabra University (UPF), Barcelona, Catalonia, SpainCarla Tiesler - Dr Von Hauner Children's Hospital, Ludwig-Maximilians University Munich, Munich, GermanyHanieh Yaghootkar - Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UKMonique M B Breteler - Department of Epidemiology, Erasmus Medical Center, Rotterdam, The NetherlandsStephanie Debette - Department of Neurology, Boston University School of Medicine, Boston, MA, USAMyriam Fornage - Institute of Molecular Medicine, Human Genetics Center and Division of Epidemiology, School of Public Health, University of Texas, Houston Health Sciences Center, Houston, TX, USAVilmundur Gudnason - University of Iceland, Reykjavik, IcelandLenore J Launer - Laboratory of Epidemiology, Demography and Biometry, National Institute on Aging, National Institute of Health, Bethesda, MD, USAAad van der Lugt - Department of Radiology, Erasmus Medical Center, Rotterdam, The NetherlandsThomas H Mosley - Department of Medicine (Geriatrics), University of Mississippi Medical Center, Jackson, MS, USASudha Seshadri - Department of Neurology, Boston University School of Medicine, Boston, MA, USAAlbert V Smith - University of Iceland, Reykjavik, IcelandMeike W Vernooij - Department of Radiology, Erasmus Medical Center, Rotterdam, The NetherlandsAlexandra If Blakemore - Department of Genomics of Common Disease, School of Public Health, Imperial College LondonRosetta M Chiavacci - Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USABjarke Feenstra - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, DenmarkJulio Fernandez-Benet - European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, United KingdomStruan F A Grant - Department of Pediatrics, University of Pennsylvania, Philadelphia PA 19104, USAAnna-Liisa Hartikainen - Institute of Clinical Medicine/Obstetrics and Gynecology, University of Oulu, Oulu, FinlandAlbert J van der Heijden - Department of Paediatrics, Erasmus Medical Center, Rotterdam, The NetherlandsCarmen Iñiguez - Division of Environment and Health, Center for Public Health Research-CSISP, Valencia, SpainMark Lathrop - Foundation Jean Dausset, CEPH, Paris, FranceWendy L McArdle - School of Social and Community Medicine, University of Bristol, Bristol, UKAnne Mølgaard - Copenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, DenmarkJohn P Newnham - School of Women's and Infants' Health, The University of Western Australia, Perth, AustraliaLyle J Palmer - Genetic Epidemiology and Biostatistics Platform, Ontario Institute for Cancer Research, Toronto, Ontario, CanadaAarno Palotie - Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UKAnnneli Pouta - National Institute for Health and Welfare, Oulu, Finland, Biocenter Oulu, University of Oulu, FinlandSusan M Ring - School of Social and Community Medicine, University of Bristol, Bristol, UKUlla Sovio - London School of Hygiene and Tropical Medicine, London, United KingdomMarie Standl - Institute of Epidemiology I, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, GermanyAndre G Uitterlinden - Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The NetherlandsH-Erich Wichmann - Department of Medicine I, University Hospital Grosshadern, Ludwig-Maximilians-Universität, Munich, GermanyNadja Hawwa Vissing - Copenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, DenmarkCharles DeCarli - Department of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, CA, USACornelia M van Duijn - Department of Epidemiology, Erasmus Medical Center, Rotterdam, The NetherlandsMark I McCarthy - Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford, UKGerard H Koppelman - Department of Pediatric Pulmonology and Pediatric Allergology, University Medical Center Groningen, University of Groningen, Groningen, The NetherlandsXavier Estivill - Genes and Disease Program, Center for Genomic Regulation (CRG-UPF), Barcelona, Catalonia, SpainAndrew T Hattersley - Peninsula NIHR Clinical Research Facility, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UKMads Melbye - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, DenmarkHans Bisgaard - Copenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, DenmarkCraig E Pennell - School of Women's and Infants' Health, The University of Western Australia, Perth, AustraliaElisabeth Widen - Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, FinlandHakon Hakonarson - Department of Pediatrics, University of Pennsylvania, Philadelphia PA 19104, USAGeorge Davey Smith - MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UKJoachim Heinrich - Institute of Epidemiology I, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, GermanyMarjo-Riitta Jarvelin - Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, MRC Health Protection Agency (HPA) Centre for Environment and Health, Imperial College LondonVincent W V Jaddoe - The Generation R Study Group, Erasmus Medical Center, Rotterdam, The NetherlandsEarly Growth Genetics (EGG) Consortium
- Contributors
- Jeffrey C Murray (Contributor) - University of Iowa, Dental Research
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.44(5), pp.532-538
- DOI
- 10.1038/ng.2238
- PMID
- 22504419
- PMCID
- PMC3773913
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Publisher
- United States
- Grant note
- MOP 82893 / Canadian Institutes of Health Research R01 HD056465 / NICHD NIH HHS 1R01HD056465-01A1 / NICHD NIH HHS British Heart Foundation U22 PS000476 / NCHHSTP CDC HHS 5R01HL087679-02 / NHLBI NIH HHS G0600705 / Medical Research Council RL1 MH083268 / NIMH NIH HHS G0801056 / Medical Research Council WT083431MA / Wellcome Trust 085541/Z/08/Z / Wellcome Trust 090532 / Wellcome Trust 092731 / Wellcome Trust 079643 / Wellcome Trust R01 HL087679 / NHLBI NIH HHS GR069224 / Wellcome Trust 098395 / Wellcome Trust G0800582 / Medical Research Council WT088431MA / Wellcome Trust G0500539 / Medical Research Council G0600331 / Medical Research Council 1RL1MH083268-01 / NIMH NIH HHS
- Language
- English
- Date published
- 04/15/2012
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025365102771
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