Article
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Nature neuroscience - 1 Apr 2016
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, Hultman Christina M, Iyegbe Conrad, Lönnqvist Jouko, Männikkö Minna, McCarroll Steve A, McGuffin Peter, McIntosh Andrew M, McQuillin Andrew, Moilanen Jukka S, Moore Carmel, Murray Robin M, Newbury-Ecob Ruth, Ouwehand Willem, Paunio Tiina, Prigmore Elena, Rees Elliott, Roberts David, Sambrook Jennifer, Sklar Pamela, St Clair David, Veijola Juha, Walters James T R, Williams Hywel, Sullivan Patrick F, Hurles Matthew E, O'Donovan Michael C, Palotie Aarno, Owen Michael J, Barrett Jeffrey C
Abstract excerpt
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 two heterozygous LoF variants in 45,376 exomes from individuals without a neuropsychiatric diagnosis, indicating that SETD1A is substantially...
Read the complete abstract on PubMed