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Nature DOI:10.1038/s41586-022-04556-w

Rare coding variants in ten genes confer substantial risk for schizophrenia.

Publication TypeJournal Article
Year of Publication2022
AuthorsSingh, T, Poterba, T, Curtis, D, Akil, H, Eissa, MAl, Barchas, JD, Bass, N, Bigdeli, TB, Breen, G, Bromet, EJ, Buckley, PF, Bunney, WE, Bybjerg-Grauholm, J, Byerley, WF, Chapman, SB, Chen, WJ, Churchhouse, C, Craddock, N, Cusick, CM, DeLisi, L, Dodge, S, Escamilla, MA, Eskelinen, S, Fanous, AH, Faraone, SV, Fiorentino, A, Francioli, L, Gabriel, SB, Gage, D, Taliun, SAGagliano, Ganna, A, Genovese, G, Glahn, DC, Grove, J, Hall, M-H, Hämäläinen, E, Heyne, HO, Holi, M, Hougaard, DM, Howrigan, DP, Huang, H, Hwu, H-G, Kahn, RS, Kang, HMin, Karczewski, KJ, Kirov, G, Knowles, JA, Lee, FS, Lehrer, DS, Lescai, F, Malaspina, D, Marder, SR, McCarroll, SA, McIntosh, AM, Medeiros, H, Milani, L, Morley, CP, Morris, DW, Mortensen, PBo, Myers, RM, Nordentoft, M, O'Brien, NL, Olivares, AMaria, Öngür, D, Ouwehand, WH, Palmer, DS, Paunio, T, Quested, D, Rapaport, MH, Rees, E, Rollins, B, F Satterstrom, K, Schatzberg, A, Scolnick, E, Scott, LJ, Sharp, SI, Sklar, P, Smoller, JW, Sobell, JL, Solomonson, M, Stahl, EA, Stevens, CR, Suvisaari, J, Tiao, G, Watson, SJ, Watts, NA, Blackwood, DH, Børglum, AD, Cohen, BM, Corvin, AP, Esko, T, Freimer, NB, Glatt, SJ, Hultman, CM, McQuillin, A, Palotie, A, Pato, CN, Pato, MT, Pulver, AE, St Clair, D, Tsuang, MT, Vawter, MP, Walters, JT, Werge, TM, Ophoff, RA, Sullivan, PF, Owen, MJ, Boehnke, M, O'Donovan, MC, Neale, BM, Daly, MJ
JournalNature
Volume604
Issue7906
Pages509-516
Date Published2022 Apr
ISSN1476-4687
KeywordsExome, Genetic Predisposition to Disease, Humans, Mutation, Neurodevelopmental Disorders, Receptors, N-Methyl-D-Aspartate, Schizophrenia
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 

DOI10.1038/s41586-022-04556-w
Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/35396579?dopt=Abstract

Alternate JournalNature
PubMed ID35396579