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Identification of common genetic risk variants for autism spectrum disorder

التفاصيل البيبلوغرافية
العنوان: Identification of common genetic risk variants for autism spectrum disorder
المؤلفون: Grove, J., Ripke, S., Als, T.D., Mattheisen, M., Walters, R.K., Won, H., Pallesen, J., Agerbo, E., Andreassen, O.A., Anney, R., Awashti, S., Belliveau, R., Bettella, F., Buxbaum, J.D., Bybjerg-Grauholm, J., Baekvad-Hansen, M., Cerrato, F., Chambert, K., Christensen, J.H., Churchhouse, C., Dellenvall, K., Demontis, D., Rubeis, S. de, Devlin, B., Djurovic, S., Dumont, A.L., Goldstein, J.I., Hansen, C.S., Hauberg, M.E., Hollegaard, M.V., Hope, S., Howrigan, D.P., Huang, H., Hultman, C.M., Klei, L., Maller, J., Martin, J., Martin, A.R., Moran, J.L., Nyegaard, M., Naeland, T., Palmer, D.S., Palotie, A., Pedersen, C.B., Pedersen, M.G., dPoterba, T., Poulsen, J.B., St Pourcain, B., Qvist, P., Rehnstrom, K., Reichenberg, A., Reichert, J., Robinson, E.B., Roeder, K., Roussos, P., Saemundsen, E., Sandin, S., Satterstrom, F.K., Smith, G.D., Stefansson, H., Steinberg, S., Stevens, C.R., Sullivan, P.F., Turley, P., Walters, G.B., Xu, X.Y., Stefansson, K., Geschwind, D.H., Nordentoft, M., Hougaard, D.M., Werge, T., Mors, O., Mortensen, P.B., Neale, B.M., Daly, M.J., Borglum, A.D., Wray, N.R., Trzaskowski, M., Byrne, E.M., Abdellaoui, A., Adams, M.J., Air, T.M., Andlauer, T.F.M., Bacanu, S.A., Beekman, A.T.F., Bigdeli, T.B., Binder, E.B., Blackwood, D.H.R., Bryois, J., Buttenschon, H.N., Cai, N., Castelao, E., Clarke, T.K., Coleman, J.R.I., Colodro-Conde, L., Couvy-Duchesne, B., Craddock, N., Crawford, G.E., Davies, G., Deary, I.J., Degenhardt, F., Derks, E.M., Direk, N., Dolan, C.V., Dunn, E.C., Eley, T.C., Escott-Price, V., Kiadeh, F.F.H., Finucane, H.K., Forstner, A.J., Frank, J., Gaspar, H.A., Gill, M., Goes, F.S., Gordon, S.D., Hall, L.S., Hansen, T.F., Herms, S., Hickie, I.B., Hoffmann, P., Homuth, G., Horn, C., Hottenga, J.J., Ising, M., Jansen, R., Jorgenson, E., Knowles, J.A., Kohane, I.S., Kraft, J., Kretzschmar, W.W., Krogh, J., Kutalik, Z., Li, Y., Lind, P.A., MacIntyre, D.J., MacKinnon, D.F., Maier, R.M., Maier, W., Marchini, J., Mbarek, H., McGrath, P., McGuffin, P., Medland, S.E., Mehta, D., Middeldorp, C.M., Mihailov, E., Milaneschi, Y., Milani, L., Mondimore, F.M., Montgomery, G.W., Mostafavi, S., Mullins, N., Nauck, M., Ng, B., Nivard, M.G., Nyholt, D.R., O'Reilly, P.F., Oskarsson, H., Owen, M.J., Painter, J.N., Peterson, R.E., Pettersson, E., Peyrot, W.J., Pistis, G., Posthuma, D., Quiroz, J.A., Rice, J.P., Riley, B.P., Rivera, M., Mirza, S.S., Schoevers, R., Schulte, E.C., Shen, L., Shi, J.X., Shyn, S.I., Sigurdsson, E., Sinnamon, G.C.B., Smit, J.H., Smith, D.J., Streit, F., Strohmaier, J., Tansey, K.E., Teismann, H., Teumer, A., Thompson, W., Thomson, P.A., Thorgeirsson, T.E., Traylor, M., Treutlein, J., Trubetskoy, V., Uitterlinden, A.G., Umbricht, D., Auwera, S. van der, Hemert, A.M. van, Viktorin, A., Visscher, P.M., Wang, Y.P., Webb, B.T., Weinsheimer, S.M., Wellmann, J., Willemsen, G., Witt, S.H., Wu, Y., Xi, H.S., Yang, J., Zhang, F.T., Arolt, V., Baune, B.T., Berger, K., Boomsma, D.I., Cichon, S., Dannlowski, U., Geus, E.J.C. de, DePaulo, J.R., Domenici, E., Domschke, K., Esko, T., Grabe, H.J., Hamilton, S.P., Hayward, C., Heath, A.C., Kendler, K.S., Kloiber, S., Lewis, G., Li, Q.S., Lucae, S., Madden, P.A.F., Magnusson, P.K., Martin, N.G., McIntosh, A.M., Metspalu, A., Muller-Myhsok, B., Nothen, M.M., O'Donovan, M.C., Paciga, S.A., Pedersen, N.L., Penninx, B.W.J.H., Perlis, R.H., Porteous, D.J., Potash, J.B., Preisig, M., Rietschel, M., Schaefer, C., Schulze, T.G., Smoller, J.W., Tiemeier, H., Uher, R., Volzke, H., Weissman, M.M., Lewis, C.M., Levinson, D.F., Breen, G., Agee, M., Alipanahi, B., Auton, A., Bell, R.K., Bryc, K., Elson, S.L., Fontanillas, P., Furlotte, N.A., Hromatka, B.S., Huber, K.E., Kleinman, A., Litterman, N.K., McIntyre, M.H., Mountain, J.L., Noblin, E.S., Northover, C.A.M., Pitts, S.J., Sathirapongsasuti, J.F., Sazonova, O.V., Shelton, J.F., Shringarpure, S., Tung, J.Y., Vacic, V., Wilson, C.H., Psychiat Genomics Consortium, BUPGEN, 23andMe Re
المساهمون: Biological Psychology, APH - Methodology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, APH - Mental Health, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Adult Psychiatry, Psychiatry, Human genetics, Amsterdam Reproduction & Development (AR&D), VU University medical center, APH - Digital Health, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Perceptual and Cognitive Neuroscience (PCN), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Me Research Team, Epidemiology, Child and Adolescent Psychiatry / Psychology
المصدر: NATURE GENETICS
Nature Genetics, 51(3), 431-444. Nature Publishing Group
Grove, J, Ripke, S, Als, T D, Mattheisen, M, Walters, R K, Won, H, Pallesen, J, Agerbo, E, Andreassen, O A, Anney, R, Awashti, S, Belliveau, R, Bettella, F, Buxbaum, J D, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Christensen, J H, Churchhouse, C, Dellenvall, K, Demontis, D, De Rubeis, S, Devlin, B, Djurovic, S, Dumont, A L, Goldstein, J I, Hansen, C S, Hauberg, M E, Hollegaard, M V, Hope, S, Howrigan, D P, Huang, H, Hultman, C M, Klei, L, Maller, J, Martin, J, Pedersen, C B, Davey Smith, G, Pourcain, B S & the 23 and Me Research Team 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
Nature genetics, 51(3), 431-444. Nature Publishing Group
Maller, J, Martin, J, Martin, A, Moran, J, Nyegaard, M, Naerland, T, Palmer, D, Palotie, A, Bocker Perdersen, C, Giortz Pedersen, M, dPoterba, T, Buchhave Poulsen, J, St Poucain, B, Qvist, P, Rehnstrom, K, Reichenberg, A, Reichert, J, Robinson, E B, Roeder, K, Roussos, P, Saemundsen, E, Sandin, S, Satterstrom, F K, Smith, G D, Stefansson, H, Steinberg, S, Stevens, C R, Sullivan, P F, Turley, P, Walters, G B, Xu, X, Stefansson, K, Geschwind, D H, Nordentoft, M, Hougaard, D M, Werge, T, Mors, O & Mortensen, P B & Neale, B M & Daly, M J & Borglum, A D 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-+ . https://doi.org/10.1038/s41588-019-0344-8
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Grove, J, Abdellaoui, A, Derks, E M, Dolan, C V, Hottenga, J J, Jansen, R, Mbarek, H, Middeldorp, C M, Milaneschi, Y, Nivard, M G, Posthuma, D, Willemsen, G, Boomsma, D I, de Geus, E J C, Penninx, B W J H, Børglum, A D, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium & 23Andme Research Team 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
Nature Genetics
Nature Genetics, 51(3), 431-+. Nature Publishing Group
Grove, J, Ripke, S, Als, T D, Mattheisen, M, Walters, R K, Won, H, Pallesen, J, Agerbo, E, Andreassen, O A, Anney, R, Awashti, S, Belliveau, R, Bettella, F, Buxbaum, J D, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Christensen, J H, Churchhouse, C, Dellenvall, K, Demontis, D, de Rubeis, S, Devlin, B, Djurovic, S, Dumont, A L, Goldstein, J I, Hansen, C S, Hauberg, M E, Hollegaard, M V, Beekman, A T F, Jansen, R, Middeldorp, C M, Milaneschi, Y, Peyrot, W J, Posthuma, D, Schoevers, R, Smit, J H, de Geus, E J C, Smit, J H, de Geus, E J C, Penninx, B W J H, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Stefansson, K, Geschwind, D H, Nordentoft, M, Hougaard, D M, Werge, T, Mors, O, Bo Mortensen, P, Neale, B M, Daly, M J & Børglum, A D 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
Nature Genetics, 51(3), 431-+. NATURE PUBLISHING GROUP
Grove, J, Ripke, S, Als, T D, Mattheisen, M, Walters, R K, Won, H, Pallesen, J, Agerbo, E, Andreassen, O A, Anney, R, Awashti, S, Belliveau, R, Bettella, F, Buxbaum, J D, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Cerrato, F, Chambert, K, Christensen, J H, Churchhouse, C, Dellenvall, K, Demontis, D, De Rubeis, S, Devlin, B, Djurovic, S, Dumont, A L, Goldstein, J I, Hansen, C S, Hauberg, M E, Hollegaard, M V, Hope, S, Howrigan, D P, Huang, H, Hultman, C M, Klei, L, Maller, J, Martin, J, Martin, A R, Moran, J L, Nyegaard, M, Nærland, T, Palmer, D S, Palotie, A, Pedersen, C B, Pedersen, M G, dPoterba, T, Poulsen, J B, Pourcain, B S, Qvist, P, Rehnström, K, Reichenberg, A, Reichert, J, Robinson, E B, Roeder, K, Roussos, P, Saemundsen, E, Sandin, S, Satterstrom, F K, Smith, G D, Stefansson, H, Steinberg, S, Stevens, C, Sullivan, P F, Turley, P, Walters, G B, Xu, X, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Stefansson, K, Geschwind, D H, Nordentoft, M, Hougaard, D M, Werge, T, Mors, O, Mortensen, P B, Neale, B M, Daly, M J & Børglum, A D 2019, ' Identification of common genetic risk variants for autism spectrum disorder ', Nature Genetics, vol. 51, no. 3, pp. 431-444 . https://doi.org/10.1038/s41588-019-0344-8
سنة النشر: 2019
مصطلحات موضوعية: Male, Netherlands Twin Register (NTR), Multifactorial Inheritance, Autism Spectrum Disorder, Denmark, LD SCORE REGRESSION, LOCI, Genome-wide association study, DE-NOVO, 0302 clinical medicine, Polymorphism (computer science), Risk Factors, SYNAPTIC PLASTICITY, CELL-SURFACE, Child, Genetics, 0303 health sciences, HERITABILITY, Genetic Predisposition to Disease/genetics, 1184 Genetics, developmental biology, physiology, Polymorphism, Single Nucleotide/genetics, Phenotype, 3. Good health, Schizophrenia, Autism spectrum disorder, Child, Preschool, Genome-Wide Association Study/methods, Female, SIMONS SIMPLEX COLLECTION, Adolescent, Biology, NEURITE OUTGROWTH, Polymorphism, Single Nucleotide, behavioral disciplines and activities, Article, 03 medical and health sciences, mental disorders, medicine, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, SDG 2 - Zero Hunger, Multifactorial Inheritance/genetics, METAANALYSIS, 030304 developmental biology, Case-control study, Heritability, medicine.disease, Autism Spectrum Disorder/genetics, Case-Control Studies, 3111 Biomedicine, 030217 neurology & neurosurgery, Genome-Wide Association Study
الوصف: Published in final edited form as: Nat Genet. 2019 March ; 51(3): 431–444. doi:10.1038/s41588-019-0344-8.
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 ASD cases and 27,969 controls that identifies five genome-wide significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), seven additional loci shared with other traits are identified at equally strict significance levels. Dissecting the polygenic architecture, we find 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.
The iPSYCH project is funded by the Lundbeck Foundation (grant numbers R102-A9118 and R155-2014-1724) and the universities and university hospitals of Aarhus and Copenhagen. Genotyping of iPSYCH and PGC samples was supported by grants from the Lundbeck Foundation, the Stanley Foundation, the Simons Foundation (SFARI 311789 to MJD), and NIMH (5U01MH094432–02 to MJD). The Danish National Biobank resource was supported by the Novo Nordisk Foundation. Data handling and analysis on the GenomeDK HPC facility was supported by NIMH (1U01MH109514–01 to M O’Donovan and ADB). High-performance computer capacity for handling and statistical analysis of iPSYCH data on the GenomeDK HPC facility was provided by the Centre for Integrative Sequencing, iSEQ, Aarhus University, Denmark (grant to ADB). Drs. S De Rubeis and JD Buxbaum were supported by NIH grants MH097849 (to JDB) and MH111661 (to JDB), and by the Seaver Foundation (to SDR and JDB). Dr J Martin was supported by the Wellcome Trust (grant no: 106047). O. Andreassen received funding from Research Council of Norway (#213694, #223273, #248980, #248778), Stiftelsen KG Jebsen and South-East Norway Health Authority. We thank the research participants and employees of 23andMe for making this work possible.
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf
اللغة: English
تدمد: 1061-4036
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c44d1833f2fd2c00737f8057983ac2
http://livrepository.liverpool.ac.uk/3045243/1/_NG-A47659R1_Borglum_Edver_1543433314_1_1543434422_1_final20181204.docx
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....89c44d1833f2fd2c00737f8057983ac2
قاعدة البيانات: OpenAIRE
الوصف
تدمد:10614036