ArticleNature communications2014
Common variation near ROBO2 is associated with expressive vocabulary in infancy.
Open access · hybridAbstract readMulticenter Study
In one paragraph
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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41citing papers in PubMed, 1 pooled it
8.6field-weighted citation impact, top 2% of its field
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
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- Shared genetics between ADHD and reading/language abilities: Genome-wide correlations, stratified enrichment, cross-trait association, and mendelian randomization.JCPP advances · 2026Article
- Pharmacogenomics of antiepileptic drug mood stabilizer treatment response in bipolar disorder: A MoStGen Consortium study.Molecular psychiatry · 2026Article
- Natural selection and language genes in humans.Scientific reports · 2026Article
- Developing language in a developing body: genetic associations of infant gross motor behaviour and self-care/symbolic actions with emerging language abilities.Journal of child psychology and psychiatry, and allied disciplines · 2026Article
- Vocal learning-associated convergent evolution in mammalian proteins and regulatory elements.Science (New York, N.Y.) · 2024Article
- Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.Frontiers in genetics · 2023Article
- Language abnormalities in schizophrenia: binding core symptoms through contemporary empirical evidence.Schizophrenia (Heidelberg, Germany) · 2022Review
- Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- The Genetic and Molecular Basis of Developmental Language Disorder: A Review.Children (Basel, Switzerland) · 2022Review
- A Brain Region-Specific Expression Profile for Genes Within Large Introgression Deserts and Under Positive Selection inFrontiers in cell and developmental biology · 2022Article
- Association between genes regulating neural pathways for quantitative traits of speech and language disorders.NPJ genomic medicine · 2021Article
- A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.Human molecular genetics · 2021Article
- The developmental genetic architecture of vocabulary skills during the first three years of life: Capturing emerging associations with later-life reading and cognition.PLoS genetics · 2021Article
- Synaptic processes and immune-related pathways implicated in Tourette syndrome.Translational psychiatry · 2021Article
- Genome-Wide Association Study of Motor Coordination.Frontiers in human neuroscience · 2021Article
- Quantitative genome-wide association analyses of receptive language in the Danish High Risk and Resilience Study.BMC neuroscience · 2020Article
- Genetic Intersections of Language and Neuropsychiatric Conditions.Current psychiatry reports · 2020Review
- Gene Expression Correlates of the Cortical Network Underlying Sentence Processing.Neurobiology of language (Cambridge, Mass.) · 2020Article
- The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia: design, results and future prospects.European journal of epidemiology · 2019Article
Corrections and comments
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Authors and funding
32 authors at 20 institutions in 6 countries.
Beate St Pourcain1] Medical Research Council Integrative Epidemiology Unit, University of Bristol, Oakfield House, 15-23 Oakfield Grove, Bristol BS8 2BN, UK [2] School of Oral and Dental Sciences, University of Bristol, Lower Maudlin Street, Bristol BS1 2LY, UK [3] School of Experimental Psychology, University of Bristol, 12a Priory Road, Bristol BS8 1TU, UK [4].
Rolieke A M Cents1] Generation R Study Group, Erasmus MC-University Medical Centre, Postbus 2040, 3000 CA Rotterdam, The Netherlands [2] Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC-University Medical Centre, Postbus 2060, 3000 CB Rotterdam, The Netherlands [3].
Andrew J O Whitehouse1] Telethon Kids Institute, Centre for Child Health Research, University of Western Australia, 100 Roberts Road, Subiaco, Western Australia 6008, Australia [2].
Claire M A Haworth1] Department of Psychology, University of Warwick, Coventry CV4 7AL, UK [2] Medical Research Council, Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK [3].
Oliver S P Davis1] Medical Research Council, Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK [2] Department of Genetics, Evolution and Environment, UCL, UCL Genetics Institute, Darwin Building, Gower Street, London WC1E 6BT, UK [3].
Paul F O'Reilly1] Medical Research Council, Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK [2] Department of Epidemiology and Biostatistics, Medical Research Council (MRC) Public Health England (PHE) Centre for Environment and Health, School of Public Health, Imperial College London, Norfolk Place, London W2 1PG, UK.
Susan RoulstoneBristol Speech and Language Therapy Research Unit, University of the West of England, Frenchay Hospital, Frenchay Park Road, BS16 1LE Bristol, UK.
Yvonne WrenBristol Speech and Language Therapy Research Unit, University of the West of England, Frenchay Hospital, Frenchay Park Road, BS16 1LE Bristol, UK.
Qi W AngSchool of Women's and Infants' Health, University of Western Australia, 374 Bagot Road, Subiaco, Western Australia 6008, Australia.
Fleur P Velders1] Generation R Study Group, Erasmus MC-University Medical Centre, Postbus 2040, 3000 CA Rotterdam, The Netherlands [2] Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC-University Medical Centre, Postbus 2060, 3000 CB Rotterdam, The Netherlands.
David M Evans1] Medical Research Council Integrative Epidemiology Unit, University of Bristol, Oakfield House, 15-23 Oakfield Grove, Bristol BS8 2BN, UK [2] School of Social and Community Medicine, University of Bristol, Canynge Hall, 39 Whatley Road, Bristol BS8 2PS, UK [3] University of Queensland Diamantina Institute, Translational Research Institute, University of Queensland, 37 Kent Street Woolloongabba, Queensland 4102, Australia.
John P Kemp1] Medical Research Council Integrative Epidemiology Unit, University of Bristol, Oakfield House, 15-23 Oakfield Grove, Bristol BS8 2BN, UK [2] School of Social and Community Medicine, University of Bristol, Canynge Hall, 39 Whatley Road, Bristol BS8 2PS, UK [3] University of Queensland Diamantina Institute, Translational Research Institute, University of Queensland, 37 Kent Street Woolloongabba, Queensland 4102, Australia.
Nicole M Warrington1] School of Women's and Infants' Health, University of Western Australia, 374 Bagot Road, Subiaco, Western Australia 6008, Australia [2] University of Queensland Diamantina Institute, Translational Research Institute, University of Queensland, 37 Kent Street Woolloongabba, Queensland 4102, Australia.
Laura MillerSchool of Social and Community Medicine, University of Bristol, Canynge Hall, 39 Whatley Road, Bristol BS8 2PS, UK.
Nicholas J Timpson1] Medical Research Council Integrative Epidemiology Unit, University of Bristol, Oakfield House, 15-23 Oakfield Grove, Bristol BS8 2BN, UK [2] School of Social and Community Medicine, University of Bristol, Canynge Hall, 39 Whatley Road, Bristol BS8 2PS, UK.
Susan M Ring1] Medical Research Council Integrative Epidemiology Unit, University of Bristol, Oakfield House, 15-23 Oakfield Grove, Bristol BS8 2BN, UK [2] School of Social and Community Medicine, University of Bristol, Canynge Hall, 39 Whatley Road, Bristol BS8 2PS, UK.
Frank C VerhulstDepartment of Child and Adolescent Psychiatry/Psychology, Erasmus MC-University Medical Centre, Postbus 2060, 3000 CB Rotterdam, The Netherlands.
Albert HofmanDepartment of Epidemiology, Erasmus MC-University Medical Centre, Postbus 2040, 3000 CA Rotterdam, The Netherlands.
Fernando Rivadeneira1] Department of Epidemiology, Erasmus MC-University Medical Centre, Postbus 2040, 3000 CA Rotterdam, The Netherlands [2] Department of Internal Medicine, Erasmus MC-University Medical Centre, Postbus 2040, 3000 CA Rotterdam, The Netherlands.
Emma L MeaburnDepartment of Psychological Sciences, Birkbeck, University of London, Malet Street, London WC1E 7HX, UK.
Thomas S PriceInstitute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, 3400 Civic Center Boulevard, Building 421, Philadelphia, Pennsylvania 19104-5158, USA.
Philip S DaleDepartment of Speech and Hearing Sciences, University of New Mexico, 1700 Lomas Boulevard NE Suite 1300, Albuquerque, New Mexico 87131, USA.
Demetris PillasDepartment of Epidemiology and Biostatistics, Medical Research Council (MRC) Public Health England (PHE) Centre for Environment and Health, School of Public Health, Imperial College London, Norfolk Place, London W2 1PG, UK.
Anneli YlihervaFaculty of Humanities, Logopedics, Child Language Research Center, University of Oulu, BOX 1000, Oulu 90014, Finland.
Alina Rodriguez1] Department of Epidemiology and Biostatistics, Medical Research Council (MRC) Public Health England (PHE) Centre for Environment and Health, School of Public Health, Imperial College London, Norfolk Place, London W2 1PG, UK [2] Mid Sweden University Department for Psychology/Mittuniversitetet Avdelningen för psykologi, 83125 Östersund, Sweden.
Jean GoldingSchool of Social and Community Medicine, University of Bristol, Canynge Hall, 39 Whatley Road, Bristol BS8 2PS, UK.
Vincent W V Jaddoe1] Generation R Study Group, Erasmus MC-University Medical Centre, Postbus 2040, 3000 CA Rotterdam, The Netherlands [2] Department of Epidemiology, Erasmus MC-University Medical Centre, Postbus 2040, 3000 CA Rotterdam, The Netherlands [3] Department of Pediatrics, Erasmus MC-University Medical Centre, Postbus 2060, 3000 CB Rotterdam, The Netherlands.
Marjo-Riitta Jarvelin1] Department of Epidemiology and Biostatistics, Medical Research Council (MRC) Public Health England (PHE) Centre for Environment and Health, School of Public Health, Imperial College London, Norfolk Place, London W2 1PG, UK [2] Unit of Primary Care, Oulu University Hospital, Kajaanintie 50, PO Box 20, FI-90220, Oulu 90029, Finland [3] Department of Children and Young People and Families, National Institute for Health and Welfare, Aapistie 1, Box 310, FI-90101 Oulu, Finland [4] Institute of Health Sciences, University of Oulu, PO Box 5000, Oulu FI-90014, Finland [5] Biocenter Oulu, University of Oulu, PO Box 5000, Aapistie 5A, OuluFI-90014, Finland.
Robert PlominMedical Research Council, Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK.
Craig E PennellSchool of Women's and Infants' Health, University of Western Australia, 374 Bagot Road, Subiaco, Western Australia 6008, Australia.
Henning Tiemeier1] Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC-University Medical Centre, Postbus 2060, 3000 CB Rotterdam, The Netherlands [2] Department of Epidemiology, Erasmus MC-University Medical Centre, Postbus 2040, 3000 CA Rotterdam, The Netherlands [3].
George Davey Smith1] Medical Research Council Integrative Epidemiology Unit, University of Bristol, Oakfield House, 15-23 Oakfield Grove, Bristol BS8 2BN, UK [2] School of Social and Community Medicine, University of Bristol, Canynge Hall, 39 Whatley Road, Bristol BS8 2PS, UK.
Erasmus MC · NLUniversity of Bristol · GBErasmus University Rotterdam · NLMedical Research Council · GBUniversity of Western Australia · AUWomen and Infants Research Foundation · AUBirkbeck, University of London · GBFrenchay Hospital · GBImperial College London · GBKing's College London · GBMid Sweden University · SEPublic Health England · GBTranslational Research Institute · AUUniversity Of Bristol Dental Hospital · GBUniversity of New Mexico · USUniversity of Oulu · FIUniversity of Pennsylvania · USUniversity of Queensland · AUUniversity of the West of England · GBUniversity of Warwick · GB
Funding
Genetics of cardiovascular risk factors in large founder population birth controlR01HL087679 · NHLBI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI HIRSCHHORN, JOEL N · 2007 to 2009
$4.0MGenetics, School environments and cognitive developmentR01HD044454 · NICHD · KING'S COLLEGE LONDON · PI PLOMIN, ROBERT · 2005 to 2014
$3.4MGenetics of Mathematical Cognition and DisabilitiesR01HD059215 · NICHD · OHIO STATE UNIVERSITY · PI PETRILL, STEPHEN A. · 2009 to 2012
$2.4MWhole Genome Assoc. Analysis Strategies for Multi. PhenotypesRL1MH083268 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FREIMER, NELSON B. · 2007 to 2011
$2.1MCIHR MOP 82893Department of Health PDF-2012-05-195European Research Council 295366Medical Research Council G0500079Medical Research Council G0500539Medical Research Council G0501804Medical Research Council G0800582Medical Research Council G0901245Medical Research Council G19/2Medical Research Council G19/2(78332)Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_UU_12013/1Medical Research Council MC_UU_12013/1-9Medical Research Council MC_UU_12013/3Medical Research Council MC_UU_12013/4NHLBI NIH HHS 5R01HL087679-02NHLBI NIH HHS R01 HL087679NICHD NIH HHS HD044454NICHD NIH HHS HD059215NICHD NIH HHS R01 HD044454NICHD NIH HHS R01 HD059215NIMH NIH HHS 1RL1MH083268-01NIMH NIH HHS RL1 MH083268Wellcome Trust 069224Wellcome Trust 085475/B/08/ZWellcome Trust 085475DONNELLYWellcome Trust 085475PELTONENWellcome Trust 085475/Z/08/ZWellcome Trust 088984Wellcome Trust 092731Wellcome Trust 102215Wellcome Trust GR069224Wellcome Trust WT083431MA
Abstract
Twin studies suggest that expressive vocabulary at ~24 months is modestly heritable. However, the genes influencing this early linguistic phenotype are unknown. Here we conduct a genome-wide screen and follow-up study of expressive vocabulary in toddlers of European descent from up to four studies of the EArly Genetics and Lifecourse Epidemiology consortium, analysing an early (15-18 months, 'one-word stage', N(Total) = 8,889) and a later (24-30 months, 'two-word stage', N(Total)=10,819) phase of language acquisition. For the early phase, one single-nucleotide polymorphism (rs7642482) at 3p12.3 near ROBO2, encoding a conserved axon-binding receptor, reaches the genome-wide significance level (P=1.3 × 10(-8)) in the combined sample. This association links language-related common genetic variation in the general population to a potential autism susceptibility locus and a linkage region for dyslexia, speech-sound disorder and reading. The contribution of common genetic influences is, although modest, supported by genome-wide complex trait analysis (meta-GCTA h(2)(15-18-months) = 0.13, meta-GCTA h(2)(24-30-months) = 0.14) and in concordance with additional twin analysis (5,733 pairs of European descent, h(2)(24-months) = 0.20).
Indexed as
Language DevelopmentQuantitative Trait LociAutistic DisorderChild, PreschoolChromosome MappingDyslexiaFemaleGene ExpressionGenetic LinkageGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInfantLanguageLanguage DisordersMaleReceptors, ImmunologicROBO2 protein, humanRoundabout Proteins
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