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Identification of common genetic risk variants for autism spectrum disorder.
Grove, Jakob; Ripke, Stephan; Als, Thomas D; Mattheisen, Manuel; Walters, Raymond K; Won, Hyejung; Pallesen, Jonatan; Agerbo, Esben; Andreassen, Ole A; Anney, Richard; Awashti, Swapnil; Belliveau, Rich; Bettella, Francesco; Buxbaum, Joseph D; Bybjerg-Grauholm, Jonas; Bækvad-Hansen, Marie; Cerrato, Felecia; Chambert, Kimberly; Christensen, Jane H; Churchhouse, Claire; Dellenvall, Karin; Demontis, Ditte; De Rubeis, Silvia; Devlin, Bernie; Djurovic, Srdjan; Dumont, Ashley L; Goldstein, Jacqueline I; Hansen, Christine S; Hauberg, Mads Engel; Hollegaard, Mads V; Hope, Sigrun; Howrigan, Daniel P; Huang, Hailiang; Hultman, Christina M; Klei, Lambertus; Maller, Julian; Martin, Joanna; Martin, Alicia R; Moran, Jennifer L; Nyegaard, Mette; Nærland, Terje; Palmer, Duncan S; Palotie, Aarno; Pedersen, Carsten Bøcker; Pedersen, Marianne Giørtz; dPoterba, Timothy; Poulsen, Jesper Buchhave; Pourcain, Beate St; Qvist, Per; Rehnström, Karola.
Afiliación
  • Grove J; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
  • Ripke S; Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark.
  • Als TD; Department of Biomedicine-Human Genetics, Aarhus University, Aarhus, Denmark.
  • Mattheisen M; Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark.
  • Walters RK; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Won H; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Pallesen J; Department of Psychiatry and Psychotherapy, Charité-Universitätsmedizin, Berlin, Germany.
  • Agerbo E; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
  • Andreassen OA; Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark.
  • Anney R; Department of Biomedicine-Human Genetics, Aarhus University, Aarhus, Denmark.
  • Awashti S; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
  • Belliveau R; Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark.
  • Bettella F; Department of Biomedicine-Human Genetics, Aarhus University, Aarhus, Denmark.
  • Buxbaum JD; Department of Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Würzburg, Germany.
  • Bybjerg-Grauholm J; Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Bækvad-Hansen M; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Cerrato F; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Chambert K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Christensen JH; UNC Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Churchhouse C; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
  • Dellenvall K; Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark.
  • Demontis D; Department of Biomedicine-Human Genetics, Aarhus University, Aarhus, Denmark.
  • De Rubeis S; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
  • Devlin B; National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark.
  • Djurovic S; Centre for Integrated Register-based Research, Aarhus University, Aarhus, Denmark.
  • Dumont AL; NORMENT-KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo, Norway.
  • Goldstein JI; Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
  • Hansen CS; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.
  • Hauberg ME; Department of Psychiatry and Psychotherapy, Charité-Universitätsmedizin, Berlin, Germany.
  • Hollegaard MV; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Hope S; NORMENT-KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo, Norway.
  • Howrigan DP; Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
  • Huang H; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Hultman CM; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Klei L; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Maller J; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Martin J; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
  • Martin AR; Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark.
  • Moran JL; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
  • Nyegaard M; Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark.
  • Nærland T; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Palmer DS; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Palotie A; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
  • Pedersen CB; Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark.
  • Pedersen MG; Department of Biomedicine-Human Genetics, Aarhus University, Aarhus, Denmark.
  • dPoterba T; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Poulsen JB; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Pourcain BS; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Qvist P; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
  • Rehnström K; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Nat Genet ; 51(3): 431-444, 2019 03.
Article en En | MEDLINE | ID: mdl-30804558
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Trastorno del Espectro Autista Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Dinamarca
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Trastorno del Espectro Autista Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Dinamarca