Rare coding variants in ten genes confer substantial risk for schizophrenia

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...

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Veröffentlicht in:	Nature (London) 2022-04, Vol.604 (7906), p.509-516
Hauptverfasser:	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, 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, Grove, Jakob, Hall, Mei-Hua, 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., Knowles, James A., Lee, Francis S., Lehrer, Douglas S., Lescai, Francesco, Marder, Stephen R., McCarroll, Steven A., McIntosh, Andrew M., Milani, Lili, Morley, Christopher P., Morris, Derek W., Mortensen, Preben Bo, 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., Solomonson, Matthew, Stahl, Eli A., Stevens, Christine R., Suvisaari, Jaana, Watts, Nicholas A., Blackwood, Douglas H., 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, Tsuang, Ming T., Vawter, Marquis P., Walters, James T., Werge, Thomas M., Ophoff, Roel A., Sullivan, Patrick F., Owen, Michael J., Boehnke, Michael, O’Donovan, Michael C., Neale, Benjamin M., Daly, Mark J.
Format:	Artikel
Sprache:	eng
Schlagworte:	45/23 45/43 631/208/205/2138 631/208/727/2000 631/378/2583 692/699/476/1799 Autism Biological activity Case-Control Studies Central nervous system Consortia Epilepsy Exome Gene expression Genes Genetic Predisposition to Disease - genetics Genomes Genomics Glutamate receptors Glutamatergic transmission Glutamic acid receptors (ionotropic) Hallucinations Health risk assessment Humanities and Social Sciences Humans Mental disorders Molecular structure multidisciplinary Mutation N-Methyl-D-aspartic acid receptors Neural coding Neurodevelopment Neurodevelopmental disorders Neurodevelopmental Disorders - genetics Pathogenesis Population Propionic acid Receptors Receptors, N-Methyl-D-Aspartate - genetics Risk analysis Risk factors Schizophrenia Schizophrenia - genetics Science Science (multidisciplinary) Structure-function relationships Synapses α-Amino-3-hydroxy-5-methyl-4-isoxazole propionic acid
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Zusammenfassung:	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
ISSN:	0028-0836 1476-4687 1476-4687
DOI:	10.1038/s41586-022-04556-w