SynthesisNature genetics2012
Common variants at 12q15 and 12q24 are associated with infant head circumference.
Erratum issuedOpen access · bronzeAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 84 papers, 10 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
84citing papers in PubMed, 10 pooled it
10.3field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
84 citing papers in PubMed, 10 syntheses or guidelines pooled it, 140 citations in OpenAlex.
- Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.Communications biology · 2023Pooled it
- A meta-analysis of pre-pregnancy maternal body mass index and placental DNA methylation identifies 27 CpG sites with implications for mother-child health.Communications biology · 2022Pooled it
- Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes.BMC medical genomics · 2022Pooled it
- Placental DNA methylation signatures of maternal smoking during pregnancy and potential impacts on fetal growth.Nature communications · 2021Pooled it
- Mendelian randomization suggests that head circumference, but not birth weight and length, associates with intelligence.Brain and behavior · 2021Pooled it
- Genome-wide meta-analysis of brain volume identifies genomic loci and genes shared with intelligence.Nature communications · 2020Pooled it
- Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.Nature communications · 2018Pooled it
- A genome-wide association study of body mass index across early life and childhood.International journal of epidemiology · 2015Pooled it
- Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.Human molecular genetics · 2013Pooled it
- The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.Human molecular genetics · 2013Pooled it
- Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.Proceedings of the National Academy of Sciences of the United States of America · 2013Trial
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- Whole Exome Sequencing Identifies a Novel Frameshift Mutation of the WRN Gene in a Werner Syndrome Family and Functional Analysis.Molecular genetics & genomic medicine · 2025Article
- Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS.Communications biology · 2025Article
- Neuronal Populations Involved in Motor Function Show Prominent Expression of Sbno1 During Postnatal Brain Development.Journal of developmental biology · 2025Article
- Investigation of genetic determinants of cognitive change in later life.Translational psychiatry · 2024Article
- Cohort Profile Update: Project Viva mothers.International journal of epidemiology · 2023Article
- The molecular genetic landscape of human brain size variation.Cell reports · 2023Article
- Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.Nature communications · 2023Review
24 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedSørensen, Thorkild I A [removed]
Authors and funding
88 authors at 20 institutions in 13 countries.
H Rob Taal *Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Beate St Pourcain *MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK.
Elisabeth Thiering *Institute of Epidemiology I, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Shikta Das *Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, UK.
Dennis O Mook-Kanamori *Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Nicole M WarringtonSchool of Women's and Infants' Health, The University of Western Australia, Perth, Australia.
Marika KaakinenInstitute of Health Sciences, University of Oulu, Finland.
Eskil Kreiner-MøllerCopenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, Denmark.
Jonathan P BradfieldCenter for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Rachel M FreathyGenetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.
Frank GellerDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Mònica GuxensCenter for Research in Environmental Epidemiology (CREAL), Barcelona, Catalonia, Spain.
Diana L CousminerInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
Marjan KerkhofDepartment of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Nicholas J TimpsonMRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK.
M Arfan IkramDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Lawrence J BeilinSchool of Medicine and Pharmacology, The University of Western Australia, Perth, Australia.
Klaus BønnelykkeCopenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, Denmark.
Jessica L BuxtonDepartment of Genomics of Common Disease, School of Public Health, Imperial College London.
Pimphen CharoenDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, UK.
Bo Lund Krogsgaard ChawesCopenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, Denmark.
Johan ErikssonNational Institute for Health and Welfare, Helsinki, Finland.
David M EvansMRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK.
Albert HofmanDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
John P KempMRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK.
Cecilia E KimCenter for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Norman KloppResearch Unit for Molecular Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Jari LahtiInstitute of Behavioural Sciences, University of Helsinki, Helsinki, Finland.
Stephen J LyeSamuel Lunenfeld Research Institute, University of Toronto, Toronto, Canada.
George McMahonMRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK.
Frank D MentchCenter for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Martina MüllerInstitute of Medical Informatics, Biometry and Epidemiology, Chair of Epidemiology, Ludwig-Maximilians-Universität, Munich, Germany.
Paul F O'ReillyDepartment of Epidemiology and Biostatistics, Imperial College London, W2 1PG London, UK.
Inga ProkopenkoOxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
Fernando RivadeneiraDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Eric A P SteegersDepartment of Obstetrics & Gynecology, Erasmus Medical Center, Rotterdam, The Netherlands.
Jordi SunyerCenter for Research in Environmental Epidemiology (CREAL), Barcelona, Catalonia, Spain.
Carla TieslerInstitute of Epidemiology I, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Hanieh YaghootkarGenetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.
Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium
Monique M B BretelerDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Stephanie DebetteDepartment of Neurology, Boston University School of Medicine, Boston, MA, USA.
Myriam FornageInstitute of Molecular Medicine, Human Genetics Center and Division of Epidemiology, School of Public Health, University of Texas, Houston Health Sciences Center, Houston, TX, USA.
Vilmundur GudnasonIcelandic Heart Association, Kopavogus, Iceland.
Lenore J LaunerLaboratory of Epidemiology, Demography and Biometry, National Institute on Aging, National Institute of Health, Bethesda, MD, USA.
Aad van der LugtDepartment of Radiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Thomas H MosleyDepartment of Medicine (Geriatrics), University of Mississippi Medical Center, Jackson, MS, USA.
Sudha SeshadriDepartment of Neurology, Boston University School of Medicine, Boston, MA, USA.
Albert V SmithIcelandic Heart Association, Kopavogus, Iceland.
Meike W VernooijDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Early Genetics & Lifecourse Epidemiology (EAGLE) consortium
Alexandra If BlakemoreDepartment of Genomics of Common Disease, School of Public Health, Imperial College London.
Rosetta M ChiavacciCenter for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Bjarke FeenstraDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Julio Fernandez-BenetEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom.
Struan F A GrantCenter for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Anna-Liisa HartikainenInstitute of Clinical Medicine/Obstetrics and Gynecology, University of Oulu, Oulu, Finland.
Albert J van der HeijdenDepartment of Paediatrics, Erasmus Medical Center, Rotterdam, The Netherlands.
Carmen IñiguezCIBER Epidemiologia y Salud Pública (CIBERESP), Barcelona, Catalonia, Spain.
Mark LathropCentre National de Génotypage, Evry, France.
Wendy L McArdleSchool of Social and Community Medicine, University of Bristol, Bristol, UK.
Anne MølgaardCopenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, Denmark.
John P NewnhamSchool of Women's and Infants' Health, The University of Western Australia, Perth, Australia.
Lyle J PalmerSamuel Lunenfeld Research Institute, University of Toronto, Toronto, Canada.
Aarno PalotieInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
Annneli PoutaNational Institute for Health and Welfare, Oulu, Finland, Biocenter Oulu, University of Oulu, Finland.
Susan M RingSchool of Social and Community Medicine, University of Bristol, Bristol, UK.
Ulla SovioDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, UK.
Marie StandlInstitute of Epidemiology I, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Andre G UitterlindenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
H-Erich WichmannInstitute of Epidemiology I, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Nadja Hawwa VissingCopenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, Denmark.
Charles DeCarliDepartment of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, CA, USA.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Mark I McCarthyOxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
Gerard H KoppelmanDepartment of Pediatric Pulmonology and Pediatric Allergology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Xavier EstivillCIBER Epidemiologia y Salud Pública (CIBERESP), Barcelona, Catalonia, Spain.
Andrew T HattersleyPeninsula NIHR Clinical Research Facility, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.
Mads MelbyeDepartment of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Hans BisgaardCopenhagen Prospective Studies on Asthma in Childhood, University of Copenhagen, Copenhagen, Denmark.
Craig E PennellSchool of Women's and Infants' Health, The University of Western Australia, Perth, Australia.
Elisabeth WidenInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
Hakon HakonarsonCenter for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
George Davey SmithMRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK.
Joachim HeinrichInstitute of Epidemiology I, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Marjo-Riitta JarvelinInstitute of Health Sciences, University of Oulu, Finland.
Early Growth Genetics (EGG) Consortium
Vincent W V JaddoeDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Erasmus MC · NLChildren's Hospital of Philadelphia · USImperial College London · GBHelmholtz Zentrum München · DEMedical Research Council · GBCopenhagen Prospective Studies on Asthma in Childhood · DKUniversity of Western Australia · AUCentro de Investigación Biomédica en Red de Epidemiología y Salud Pública · ESStatens Serum Institut · DKUniversity of Bristol · GBUniversity of Oulu · FIBoston University · USFinnish Institute for Health and Welfare · FIGentofte Hospital · DKIcelandic Heart Association · ISLudwig-Maximilians-Universität München · DEPeninsula College of Medicine and Dentistry · GBUniversity of Groningen · NLUniversity of Helsinki · FIUniversity of Oxford · GB
Funding
Genome Wide Association Study for Childhood ObesityR01HD056465 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI GRANT, STRUAN F A · 2008 to 2024
$9.5MGenetics of cardiovascular risk factors in large founder population birth controlR01HL087679 · NHLBI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI HIRSCHHORN, JOEL N · 2007 to 2009
$4.0MGenetic Markers of Brain AgingZIAAG007270 · NIA · NATIONAL INSTITUTE ON AGING · PI LAUNER, LENORE J · 2009 to 2025
$2.7MWhole Genome Assoc. Analysis Strategies for Multi. PhenotypesRL1MH083268 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FREIMER, NELSON B. · 2007 to 2011
$2.1MHIV Prev. Proj. YMSM and Young Transgender Persons of colorU22PS000476 · PS · LA CLINICA DEL PUEBLO, INC. · PI SOL, CATALINA · 2006 to 2010
$1.7MBritish Heart FoundationCIHR MOP 82893Medical Research Council G0500539Medical Research Council G0600331Medical Research Council G0600705Medical Research Council G0800582Medical Research Council G0801056Medical Research Council MC_PC_15018NCHHSTP CDC HHS U22 PS000476NHLBI NIH HHS 5R01HL087679-02NHLBI NIH HHS R01 HL087679NICHD NIH HHS 1R01HD056465-01A1NICHD NIH HHS R01 HD056465NIMH NIH HHS 1RL1MH083268-01NIMH NIH HHS RL1 MH083268Wellcome Trust 079643Wellcome Trust 085541/Z/08/ZWellcome Trust 090532Wellcome Trust 092731Wellcome Trust 098395Wellcome Trust GR069224Wellcome Trust WT083431MAWellcome Trust WT088431MA
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.
Indexed as
Chromosomes, Human, Pair 12HeadPolymorphism, Single NucleotidePregnancy ComplicationsWhite PeopleFemaleGenetic LociGenetic MarkersGenome-Wide Association StudyHumansInfantMalePregnancyGenetic Markers
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