Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene - PubMed (original) (raw)

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

Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H; Swedish Schizophrenia Study; INTERVAL Study; DDD Study; UK10 K Consortium; Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC. Singh T, et al. Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14. Nat Neurosci. 2016. PMID: 26974950 Free PMC article.

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia.

Rees E, Han J, Morgan J, Carrera N, Escott-Price V, Pocklington AJ, Duffield M, Hall LS, Legge SE, Pardiñas AF, Richards AL, Roth J, Lezheiko T, Kondratyev N, Kaleda V, Golimbet V, Parellada M, González-Peñas J, Arango C; GROUP Investigators; Gawlik M, Kirov G, Walters JTR, Holmans P, O'Donovan MC, Owen MJ. Rees E, et al. Nat Neurosci. 2020 Feb;23(2):179-184. doi: 10.1038/s41593-019-0565-2. Epub 2020 Jan 13. Nat Neurosci. 2020. PMID: 31932766 Free PMC article.