Article
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.
Nature genetics - 1 Mar 2023
Liu Dongjing, Meyer Dara, Fennessy Brian, Feng Claudia, Cheng Esther, Johnson Jessica S, Park You Jeong, Rieder Marysia-Kolbe, Ascolillo Steven, de Pins Agathe, Dobbyn Amanda, Lebovitch Dannielle, Moya Emily, Nguyen Tan-Hoang, Wilkins Lillian, Hassan Arsalan, Burdick Katherine E, Buxbaum Joseph D, Domenici Enrico, Frangou Sophia, Hartmann Annette M, Laurent-Levinson Claudine, Malhotra Dheeraj, Pato Carlos N, Pato Michele T, Ressler Kerry, Roussos Panos, Rujescu Dan, Arango Celso, Bertolino Alessandro, Blasi Giuseppe, Bocchio-Chiavetto Luisella, Campion Dominique, Carr Vaughan, Fullerton Janice M, Gennarelli Massimo, González-Peñas Javier, Levinson Douglas F, Mowry Bryan, Nimgaokar Vishwajit L, Pergola Giulio, Rampino Antonio, Cervilla Jorge A, Rivera Margarita, Schwab Sibylle G, Wildenauer Dieter B, Daly Mark, Neale Benjamin, Singh Tarjinder, O'Donovan Michael C, Owen Michael J, Walters James T, Ayub Muhammad, Malhotra Anil K, Lencz Todd, Sullivan Patrick F, Sklar Pamela, Stahl Eli A, Huckins Laura M, Charney Alexander W
Abstract excerpt
Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes1. This recent study-and most other large-scale human genetics studies-was mainly composed of...
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