Nature genetics, 2019-03, Vol.51 (3), p.431-444
- 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
- Reichenberg, Abraham
- Reichert, Jennifer
- Robinson, Elise B.
- Roeder, Kathryn
- Roussos, Panos
- Saemundsen, Evald
- Sandin, Sven
- Satterstrom, F. Kyle
- Davey Smith, George
- Stefansson, Hreinn
- Steinberg, Stacy
- Stevens, Christine R.
- Sullivan, Patrick F.
- Turley, Patrick
- Walters, G. Bragi
- Xu, Xinyi
- Stefansson, Kari
- Geschwind, Daniel H.
- Nordentoft, Merete
- Hougaard, David M.
- Werge, Thomas
- Mors, Ole
- Mortensen, Preben Bo
- Neale, Benjamin M.
- Daly, Mark J.
- Børglum, Anders D.
2019
Volltextzugriff (PDF)
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- Autor(en) / Beteiligte
- 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
- Reichenberg, Abraham
- Reichert, Jennifer
- Robinson, Elise B.
- Roeder, Kathryn
- Roussos, Panos
- Saemundsen, Evald
- Sandin, Sven
- Satterstrom, F. Kyle
- Davey Smith, George
- Stefansson, Hreinn
- Steinberg, Stacy
- Stevens, Christine R.
- Sullivan, Patrick F.
- Turley, Patrick
- Walters, G. Bragi
- Xu, Xinyi
- Stefansson, Kari
- Geschwind, Daniel H.
- Nordentoft, Merete
- Hougaard, David M.
- Werge, Thomas
- Mors, Ole
- Mortensen, Preben Bo
- Neale, Benjamin M.
- Daly, Mark J.
- Børglum, Anders D.
- Titel
- Identification of common genetic risk variants for autism spectrum disorder
- Ist Teil von
- Nature genetics, 2019-03, Vol.51 (3), p.431-444
- Ort / Verlag
- New York: Nature Publishing Group US
- Erscheinungsjahr
- 2019
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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. A genome-wide-association meta-analysis of 18,381 austim spectrum disorder (ASD) cases and 27,969 controls identifies five risk loci. The authors find quantitative and qualitative polygenic heterogeneity across ASD subtypes.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036, 1546-1718eISSN: 1546-1718DOI: 10.1038/s41588-019-0344-8Titel-ID: cdi_swepub_primary_oai_prod_swepub_kib_ki_se_140399523
- Format
- –
- Schlagworte
- Adolescent, Agriculture, Animal Genetics and Genomics, Autism, Autism Spectrum Disorder, Autism Spectrum Disorder - genetics, Biological effects, Biomedical and Life Sciences, Biomedicine, Cancer Research, Care and treatment, Case-Control Studies, Child, Child, Preschool, Consortia, Denmark, Disease susceptibility, Female, Gene Function, Genetic aspects, Genetic diversity, Genetic Predisposition to Disease, Genetic Predisposition to Disease - genetics, Genetic variance, Genetic variation, Genome-Wide Association Study, Genome-Wide Association Study - methods, Genomes, Genomics, Heterogeneity, Human Genetics, Humans, Life Sciences, Loci, Major depressive disorder, Male, Medicin och hälsovetenskap, Mental depression, Mental disorders, Meta-analysis, Multifactorial Inheritance, Multifactorial Inheritance - genetics, Mutation, Neurons, Neurophysiology, Pervasive developmental disorders, Phenotype, Phenotypes, Polygenic inheritance, Polymorphism, Single Nucleotide, Polymorphism, Single Nucleotide - genetics, Population, Principal components analysis, Quality control, Risk Factors, Schizophrenia, Studies