학술논문
Rare coding variants in ten genes confer substantial risk for schizophrenia.
Document Type
article
Author
Singh, Tarjinder; Poterba, Timothy; Curtis, David; Akil, Huda; Al Eissa, Mariam; Barchas, Jack D; Bass, Nicholas; Bigdeli, Tim B; Breen, Gerome; Bromet, Evelyn J; Buckley, Peter F; Bunney, William E; Bybjerg-Grauholm, Jonas; Byerley, William F; Chapman, Sinéad B; Chen, Wei J; Churchhouse, Claire; Craddock, Nicholas; Cusick, Caroline M; DeLisi, Lynn; Dodge, Sheila; Escamilla, Michael A; Eskelinen, Saana; Fanous, Ayman H; Faraone, Stephen V; Fiorentino, Alessia; Francioli, Laurent; Gabriel, Stacey B; Gage, Diane; Gagliano Taliun, Sarah A; Ganna, Andrea; Genovese, Giulio; Glahn, David C; Grove, Jakob; Hall, Mei-Hua; Hämäläinen, Eija; Heyne, Henrike O; Holi, Matti; Hougaard, David M; Howrigan, Daniel P; Huang, Hailiang; Hwu, Hai-Gwo; Kahn, René S; Kang, Hyun Min; Karczewski, Konrad J; Kirov, George; Knowles, James A; Lee, Francis S; Lehrer, Douglas S; Lescai, Francesco; Malaspina, Dolores; Marder, Stephen R; McCarroll, Steven A; McIntosh, Andrew M; Medeiros, Helena; Milani, Lili; Morley, Christopher P; Morris, Derek W; Mortensen, Preben Bo; Myers, Richard M; Nordentoft, Merete; O'Brien, Niamh L; Olivares, Ana Maria; Ongur, Dost; Ouwehand, Willem H; Palmer, Duncan S; Paunio, Tiina; Quested, Digby; Rapaport, Mark H; Rees, Elliott; Rollins, Brandi; Satterstrom, F Kyle; Schatzberg, Alan; Scolnick, Edward; Scott, Laura J; Sharp, Sally I; Sklar, Pamela; Smoller, Jordan W; Sobell, Janet L; Solomonson, Matthew; Stahl, Eli A; Stevens, Christine R; Suvisaari, Jaana; Tiao, Grace; Watson, Stanley J; Watts, Nicholas A; Blackwood, Douglas H; Børglum, Anders D; Cohen, Bruce M; Corvin, Aiden P; Esko, Tõnu; Freimer, Nelson B; Glatt, Stephen J; Hultman, Christina M; McQuillin, Andrew; Palotie, Aarno; Pato, Carlos N; Pato, Michele T; Pulver, Ann E; St Clair, David
Source
Nature. 604(7906)
Subject
Language
Abstract
Rare coding variation has historically provided the most direct connections between gene function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 schizophrenia cases and 97,322 controls, we implicate ultra-rare coding variants (URVs) in 10 genes as conferring substantial risk for schizophrenia (odds ratios of 3-50, P