作者
Tarjinder Singh, Timothy Poterba, David Curtis, Huda Akil, Mariam Al Eissa, Jack D Barchas, Nicholas Bass, Tim B Bigdeli, Gerome Breen, Evelyn J Bromet, Peter F Buckley, William E Bunney, Jonas Bybjerg-Grauholm, William F Byerley, Sinéad B Chapman, Wei J Chen, Claire Churchhouse, Nicholas Craddock, Caroline M Cusick, Lynn DeLisi, Sheila Dodge, Michael A Escamilla, Saana Eskelinen, Ayman H Fanous, Stephen V Faraone, Alessia Fiorentino, Laurent Francioli, Stacey B Gabriel, Diane Gage, Sarah A Gagliano Taliun, Andrea Ganna, Giulio Genovese, David C Glahn, Jakob Grove, Mei-Hua Hall, Eija Hämäläinen, Henrike O Heyne, Matti Holi, David M Hougaard, Daniel P Howrigan, Hailiang Huang, Hai-Gwo Hwu, René S Kahn, Hyun Min Kang, Konrad J Karczewski, George Kirov, James A Knowles, Francis S Lee, Douglas S Lehrer, Francesco Lescai, Dolores Malaspina, Stephen R Marder, Steven A McCarroll, Andrew M McIntosh, Helena Medeiros, Lili Milani, Christopher P Morley, Derek W Morris, Preben Bo Mortensen, Richard M Myers, Merete Nordentoft, Niamh L O’Brien, Ana Maria Olivares, Dost Ongur, Willem H Ouwehand, Duncan S Palmer, Tiina Paunio, Digby Quested, Mark H Rapaport, Elliott Rees, Brandi Rollins, F Kyle Satterstrom, Alan Schatzberg, Edward Scolnick, Laura J Scott, Sally I Sharp, Pamela Sklar, Jordan W Smoller, Janet L Sobell, Matthew Solomonson, Eli A Stahl, Christine R Stevens, Jaana Suvisaari, Grace Tiao, Stanley J Watson, Nicholas A Watts, Douglas H Blackwood, Anders D Børglum, Bruce M Cohen, Aiden P Corvin, Tõnu Esko, Nelson B Freimer, Stephen J Glatt, Christina M Hultman, Andrew McQuillin, Aarno Palotie, Carlos N Pato, Michele T Pato, Ann E Pulver, David St. Clair, Ming T Tsuang, Marquis P Vawter, James T Walters, Thomas M Werge, Roel A Ophoff, Patrick F Sullivan, Michael J Owen, Michael Boehnke, Michael C O’Donovan, Benjamin M Neale, Mark J Daly
发表日期
2022/4/21
期刊
Nature
卷号
604
期号
7906
页码范围
509-516
出版商
Nature Publishing Group UK
简介
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 < 2.14 × 10−6) and 32 genes at a false discovery rate of <5%. These genes have the greatest expression in central nervous system neurons and have diverse molecular functions that include the formation, structure and function of the synapse. The associations of the NMDA (N-methyl-d-aspartate) receptor subunit GRIN2A and AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptor subunit GRIA3 provide support for dysfunction of the glutamatergic system as a mechanistic hypothesis in the pathogenesis of schizophrenia. We observe an overlap of …
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