Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

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Singh, Tarjinder; Kurki, Mitja I; Curtis, David; Purcell, Shaun M; Crooks, Lucy; McRae, Jeremy; Suvisaari, Jaana; Chheda, Himanshu; Blackwood, Douglas; Breen, Gerome; Pietiläinen, Olli; Gerety, Sebastian S; Ayub, Muhammad; Blyth, Moira; Cole, Trevor; Collier, David; Coomber, Eve L; Craddock, Nick; Daly, Mark J; Danesh, John; DiForti, Marta; Foster, Alison; Freimer, Nelson B; Geschwind, Daniel; Johnstone, Mandy; Joss, Shelagh; Kirov, Georg; Körkkö, Jarmo; Kuismin, Outi; Holmans, Peter; ... view all 63 authors
  • Publisher: eScholarship, University of California
  • Subject: Swedish Schizophrenia Study | INTERVAL Study | DDD Study | UK10 K Consortium | Humans | Genetic Predisposition to Disease | Histone-Lysine N-Methyltransferase | Case-Control Studies | Cohort Studies | Schizophrenia | Finland | Female | Male | Genetic Variation | Genetic Association Studies | Neurodevelopmental Disorders | Neurology & Neurosurgery | Neurosciences | Cognitive Sciences

By analyzing the whole-exome sequences of 4,264 schizophrenia cases, 9,343 controls and 1,077 trios, we identified a genome-wide significant association between rare loss-of-function (LoF) variants in SETD1A and risk for schizophrenia (P = 3.3 × 10(-9)). We found only t... View more
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