Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
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Machine scores (provisional)
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- Validation status
score_only:v0-immature-baseline· verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it
Abstract
BACKGROUND: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15). METHODS: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). RESULTS: at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. CONCLUSIONS: , and
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The record
- Venue
- Molecular Autism
- Topic
- Genetic Associations and Epidemiology
- Field
- Biochemistry, Genetics and Molecular Biology
- Canadian institutions
- —
- Funders
- Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los AngelesDavid Geffen School of Medicine, University of California, Los AngelesNational Institute of Mental HealthStatens Serum InstitutCanadian Institutes of Health ResearchRoy J. and Lucille A. Carver College of Medicine, University of IowaDepartment of Psychiatry, University of TorontoFriedman Brain Institute, Icahn School of Medicine at Mount SinaiStanley Center for Psychiatric Research, Broad InstituteResearch Institute, Nationwide Children's HospitalUniversity of North Carolina at Chapel HillUniversity of WashingtonUniversity of California, Los AngelesUniversity of Illinois at Urbana-ChampaignHealth Research BoardHospital for Sick ChildrenH. Lundbeck A/SUniversità di BolognaYale UniversityKarolinska InstitutetCenters for Disease Control and PreventionNederlandse Organisatie voor Wetenschappelijk OnderzoekInstitut National de la Santé et de la Recherche MédicaleMindich Child Health and Development Institute, Icahn School of Medicine at Mount SinaiTrinity College DublinNewcastle UniversityMcMaster UniversityUniversité de ToulouseUkrainian Research Institute, Harvard UniversityUniversity of OxfordUniversity of TorontoUniversity of AlbertaBroad InstituteDeutsches KrebsforschungszentrumUniversity College DublinMcGill UniversityJohns Hopkins UniversityRush UniversityWeill Cornell Medical CollegeAarhus UniversitetshospitalAarhus UniversitetMassachusetts General HospitalUniversity of MinnesotaRegion HovedstadenUniversity of PennsylvaniaJohns Hopkins Bloomberg School of Public HealthUniversity of MiamiUniversidade de CoimbraVanderbilt UniversityNational Cancer InstituteLundbeckfondenCardiff UniversityGenome CanadaBrown UniversityWellcome TrustMedical Research CouncilBattelleUniversity of Southern CaliforniaSchool of Medicine, Indiana UniversityUniversity of PittsburghNationwide Children's HospitalCarnegie Mellon UniversityAutism Speaks
- Keywords
- Schizophrenia spectrumGenome-wide association studyAutism spectrum disorderAutismSchizophrenia (object-oriented programming)NeuropsychologyPsychologyPsychiatryNeurologyClinical psychologyMedicinePsychosisGeneticsSingle-nucleotide polymorphismCognitionBiology
- Has abstract in OpenAlex
- yes