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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
- 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;
- Clair, David St;
- Veijola, Juha;
- Walters, James TR;
- Williams, Hywel;
- Sullivan, Patrick F;
- Hurles, Matthew E;
- O'Donovan, Michael C;
- Palotie, Aarno;
- Owen, Michael J;
- Barrett, Jeffrey C
Published Web Location
https://doi.org/10.1038/nn.4267Abstract
The authors analyzed the whole-exome sequences of over 16,000 individuals and found that very rare variants predicted to disrupt the SETD1A gene confer substantial risk for schizophrenia. Damaging variants in SETD1A were also associated with diverse, severe developmental disorders, providing an important genetic link between schizophrenia and other neurodevelopmental disorders.
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