Identification of common genetic risk variants for autism spectrum disorder
- Grove, J.
- Ripke, S.
- Als, T.
- Mattheisen, M.
- Walters, R.
- Won, H.
- Pallesen, J.
- Agerbo, E.
- Andreassen, O.
- Anney, R.
- Belliveau, R.
- Bettella, F.
- Buxbaum, J.
- Bybjerg-Grauholm, J.
- Bækved-Hansen, M.
- Cerrato, F.
- Chambert, K.
- Christensen, J.
- Churchhouse, C.
- Dellenvall, K.
- Demontis, D.
- De Rubeis, S.
- Devlin, B.
- Djurovic, S.
- Dumont, A.
- Goldstein, J.
- Hansen, C.
- Hauberg, M.
- Hollegaard, M.
- Hope, S.
- Howrigan, D.
- Huang, H.
- Hultman, C.
- Klei, L.
- Maller, J.
- Martin, J.
- Martin, A.
- Moran, J.
- Nyegaard, M.
- Nærland, T.
- Palmer, D.
- Palotie, A.
- Pedersen, C.
- Pedersen, M.
- Poterba, T.
- Poulsen, J.
- St Pourcain, B.
- Qvist, P.
- Rehnström, K.
- Reichenberg, A.
- Reichert, J.
- Robinson, E.
- Roeder, K.
- Roussos, P.
- Saemundsen, E.
- Sandin, S.
- Satterstrom, F.
- Smith, G.
- Stefansson, H.
- Stefansson, K.
- Steinberg, S.
- Stevens, C.
- Sullivan, P.
- Turley, P.
- Walters, G.
- Xu, X.
- Geschwind, D.
- Nordentoft, M.
- Hougaard, D.
- Werge, T.
- Mors, O.
- Mortensen, P.
- Neale, B.
- Daly, M.
- Børglum, A.
DOIAbstract
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...
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