Rare coding variants in ten genes confer substantial risk for schizophrenia

Singh, Tarjinder; Poterba, Timothy; Curtis, David; Akil, Huda; Eissa, Mariam Al; Barchas, Jack D.; Bass, Nicholas; Bigdeli, Tim B.; Breen, Gerome; Bromet, Evelyn J.; Buckley, P.F.; Bunney, William E.; Bybjerg‐Grauholm, Jonas; Byerley, William; Chapman, Sinéad B.; Chen, Wei J.; Churchhouse, Claire; Craddock, Nicholas; Cusick, Caroline; DeLisi, Lynn E.; Dodge, Sheila; Escamilla, Michael; Eskelinen, Saana; Fanous, Ayman H.; Faraone, Stephen V.; Fiorentino, Alessia; Francioli, Laurent C.; Gabriel, Stacey; Gage, Diane; Taliun, Sarah A. Gagliano; Ganna, Andrea; Genovese, Giulio; Glahn, David C.; Grove, Jakob; Hall, Mei‐Hua; Hämäläinen, Eija; Heyne, Henrike; 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, R; Nordentoft, Merete; O’Brien, Niamh L.; Olivares, Ana Maria; Öngür, Döst; Ouwehand, Willem H.; Palmer, Duncan S.; Paunio, Tiina; Quested, Digby; Rapaport, Mark Hyman; Rees, Elliott; Rollins, Brandi; Satterstrom, F. Kyle; Schatzberg, Alan F.; Scolnick, Edward M.; Scott, Laura J.; Sharp, Sally I.; Sklar, Pamela; Smoller, Jordan W.; Sobell, Janet L.; Solomonson, Matthew; Stahl, Eli A.; Stevens, Christine; Suvisaari, Jaana; Tiao, Grace; Watson, Stanley J.; Watts, Nicholas A.; Blackwood, Douglas; Børglum, Anders D.; Cohen, Bruce M.; Corvin, Aiden; Esko, Tõnu; Freimer, Nelson B.; Glatt, Stephen J.; Hultman, Christina M.; McQuillin, Andrew; Palotie, Aarno; Pato, Carlos N.; Pato, Michele T.; Pulver, Ann E.; Clair, David St; Tsuang, Ming T.; Vawter, Marquis P.; Walters, James; Werge, Thomas; Ophoff, Roel A.; Sullivan, Patrick F.; Owen, Michael J.; Boehnke, Michael; O‘Donovan, Michael; Neale, Benjamin M.; Daly, Mark J.

doi:10.1038/s41586-022-04556-w

articleNatureApr 8, 2022GREEN OA

Rare coding variants in ten genes confer substantial risk for schizophrenia

TSTarjinder Singh TPTimothy Poterba DCDavid Curtis HAHuda Akil MAMariam Al Eissa

Broad Institute · Massachusetts General Hospital · +56 more institutions

PubMed

Indexed incrossrefpubmed

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

Citation impact

866

total citations

FWCI: 147.64
Percentile: 100%
References: 50

Citations per year

Authors

111

TS
Tarjinder SinghCorresponding
Broad Institute, Massachusetts General Hospital
TP
Timothy Poterba
Broad Institute, Massachusetts General Hospital
DC
David Curtis
Queen Mary University of London, University College London
HA
Huda Akil
University of Michigan
MA
Mariam Al Eissa
University College London

Topics & keywords

Topics

Genomics and Rare Diseases100%
Genomic variations and chromosomal abnormalities100%
Genetic Associations and Epidemiology100%

Keywords

Gene
Genetics
Schizophrenia (object-oriented programming)
Biology
Computational biology
Medicine
Psychiatry

UN Sustainable Development Goals

Good health and well-being

No related works found for this paper.

Funding

G
GlaxoSmithKline
MG
Massachusetts General Hospital
B
Biogen
DF
Dalio Foundation
BI
Broad Institute
Award: U54HG003067
SF
Stanley Family Foundation
NI
National Institute for Health and Care Research
KC
King's College London
CU
Cardiff University
Awards: MR/L010305/1, G0800509
NI
National Institutes of Health
Awards: U54HG003067, AA09367, HG007022, R01MH104964, DA036216, -0001, R01MH085521, MH085548, DA024417, DA05147, U01MH105578, DA037904, R01 MH085548
IO
Institute of Psychiatry, Psychology and Neuroscience, King’s College London
CI
Canadian Institutes of Health Research
MR
Medical Research Council
Awards: MR/L010305/1, MR/L010305/1, G0800509
NI
National Institute of Mental Health
Awards: U01MH109539, R01MH085548, R01MH104964, MH105653, R01MH085521, U01MH105578, DA05147