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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 07708naa a2202185 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:153291149 | |
| 003 | SwePub | |
| 008 | 240701s2023 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1532911492 URI |
| 024 | 7 | a https://doi.org/10.1038/s41588-023-01305-12 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Liu, DJ4 aut |
| 245 | 1 0 | a Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations |
| 264 | c 2023-03-13 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2023 |
| 520 | a 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 individuals of European (EUR) ancestry, and the generalizability of the findings in non-EUR populations remains unclear. To address this gap, we designed a custom sequencing panel of 161 genes selected based on the current knowledge of SCZ genetics and sequenced a new cohort of 11,580 SCZ cases and 10,555 controls of diverse ancestries. Replicating earlier work, we found that cases carried a significantly higher burden of rare protein-truncating variants (PTVs) among evolutionarily constrained genes (odds ratio = 1.48; P = 5.4 × 10−6). In meta-analyses with existing datasets totaling up to 35,828 cases and 107,877 controls, this excess burden was largely consistent across five ancestral populations. Two genes (SRRM2 and AKAP11) were newly implicated as SCZ risk genes, and one gene (PCLO) was identified as shared by individuals with SCZ and those with autism. Overall, our results lend robust support to the rare allelic spectrum of the genetic architecture of SCZ being conserved across diverse human populations. | |
| 700 | 1 | a Meyer, D4 aut |
| 700 | 1 | a Fennessy, B4 aut |
| 700 | 1 | a Feng, C4 aut |
| 700 | 1 | a Cheng, E4 aut |
| 700 | 1 | a Johnson, JS4 aut |
| 700 | 1 | a Park, YJ4 aut |
| 700 | 1 | a Rieder, MK4 aut |
| 700 | 1 | a Ascolillo, S4 aut |
| 700 | 1 | a de Pins, A4 aut |
| 700 | 1 | a Dobbyn, A4 aut |
| 700 | 1 | a Lebovitch, D4 aut |
| 700 | 1 | a Moya, E4 aut |
| 700 | 1 | a Nguyen, TH4 aut |
| 700 | 1 | a Wilkins, L4 aut |
| 700 | 1 | a Hassan, A4 aut |
| 700 | 1 | a Aghanwa, HS4 aut |
| 700 | 1 | a Burdick, KE4 aut |
| 700 | 1 | a Buxbaum, JD4 aut |
| 700 | 1 | a Domenici, E4 aut |
| 700 | 1 | a Frangou, S4 aut |
| 700 | 1 | a Hartmann, AM4 aut |
| 700 | 1 | a Laurent-Levinson, C4 aut |
| 700 | 1 | a Malhotra, D4 aut |
| 700 | 1 | a Pato, CN4 aut |
| 700 | 1 | a Pato, MT4 aut |
| 700 | 1 | a Ressler, K4 aut |
| 700 | 1 | a Roussos, P4 aut |
| 700 | 1 | a Rujescu, D4 aut |
| 700 | 1 | a Arango, C4 aut |
| 700 | 1 | a Bertolino, A4 aut |
| 700 | 1 | a Blasi, G4 aut |
| 700 | 1 | a Bocchio-Chiavetto, L4 aut |
| 700 | 1 | a Campion, D4 aut |
| 700 | 1 | a Carr, V4 aut |
| 700 | 1 | a Fullerton, JM4 aut |
| 700 | 1 | a Gennarelli, M4 aut |
| 700 | 1 | a Gonzalez-Penas, J4 aut |
| 700 | 1 | a Levinson, DF4 aut |
| 700 | 1 | a Mowry, B4 aut |
| 700 | 1 | a Nimgaokar, VL4 aut |
| 700 | 1 | a Pergola, G4 aut |
| 700 | 1 | a Rampino, A4 aut |
| 700 | 1 | a Cervilla, JA4 aut |
| 700 | 1 | a Rivera, M4 aut |
| 700 | 1 | a Schwab, SG4 aut |
| 700 | 1 | a Wildenauer, DB4 aut |
| 700 | 1 | a Daly, M4 aut |
| 700 | 1 | a Neale, B4 aut |
| 700 | 1 | a Singh, T4 aut |
| 700 | 1 | a O'Donovan, MC4 aut |
| 700 | 1 | a Owen, MJ4 aut |
| 700 | 1 | a Walters, JT4 aut |
| 700 | 1 | a Ayub, M4 aut |
| 700 | 1 | a Malhotra, AK4 aut |
| 700 | 1 | a Lencz, T4 aut |
| 700 | 1 | a Sullivan, PFu Karolinska Institutet4 aut |
| 700 | 1 | a Sklar, P4 aut |
| 700 | 1 | a Stahl, EA4 aut |
| 700 | 1 | a Huckins, LM4 aut |
| 700 | 1 | a Charney, AW4 aut |
| 700 | 1 | a Aghanwa, HS4 aut |
| 700 | 1 | a Ansari, M4 aut |
| 700 | 1 | a Asif, A4 aut |
| 700 | 1 | a Aslam, R4 aut |
| 700 | 1 | a Ayuso, JL4 aut |
| 700 | 1 | a Bigdeli, T4 aut |
| 700 | 1 | a Bignotti, S4 aut |
| 700 | 1 | a Bobes, J4 aut |
| 700 | 1 | a Bradley, B4 aut |
| 700 | 1 | a Buckley, P4 aut |
| 700 | 1 | a Cairns, MJ4 aut |
| 700 | 1 | a Catts, SV4 aut |
| 700 | 1 | a Chaudhry, AR4 aut |
| 700 | 1 | a Cohen, D4 aut |
| 700 | 1 | a Collins, BL4 aut |
| 700 | 1 | a Consoli, A4 aut |
| 700 | 1 | a Costas, J4 aut |
| 700 | 1 | a Crespo-Facorro, B4 aut |
| 700 | 1 | a Daskalakis, NP4 aut |
| 700 | 1 | a Davidson, M4 aut |
| 700 | 1 | a Davis, KL4 aut |
| 700 | 1 | a Dickerson, F4 aut |
| 700 | 1 | a Dogar, IA4 aut |
| 700 | 1 | a Drapeau, E4 aut |
| 700 | 1 | a Fananas, L4 aut |
| 700 | 1 | a Fanous, A4 aut |
| 700 | 1 | a Fatima, W4 aut |
| 700 | 1 | a Fatjo, M4 aut |
| 700 | 1 | a Filippich, C4 aut |
| 700 | 1 | a Friedman, J4 aut |
| 700 | 1 | a Fullard, JF4 aut |
| 700 | 1 | a Georgakopoulos, P4 aut |
| 700 | 1 | a Giannitelli, M4 aut |
| 700 | 1 | a Giegling, I4 aut |
| 700 | 1 | a Green, MJ4 aut |
| 700 | 1 | a Guillin, O4 aut |
| 700 | 1 | a Gutierrez, B4 aut |
| 700 | 1 | a Handoko, HY4 aut |
| 700 | 1 | a Hansen, SK4 aut |
| 700 | 1 | a Haroon, M4 aut |
| 700 | 1 | a Haroutunian, V4 aut |
| 700 | 1 | a Henskens, FA4 aut |
| 700 | 1 | a Hussain, F4 aut |
| 700 | 1 | a Jablensky, AV4 aut |
| 700 | 1 | a Junejo, J4 aut |
| 700 | 1 | a Kelly, BJ4 aut |
| 700 | 1 | a Khan, SUDA4 aut |
| 700 | 1 | a Khan, MNS4 aut |
| 700 | 1 | a Khan, A4 aut |
| 700 | 1 | a Khawaja, HR4 aut |
| 700 | 1 | a Khizar, B4 aut |
| 700 | 1 | a Kleopoulos, SP4 aut |
| 700 | 1 | a Knowles, J4 aut |
| 700 | 1 | a Konte, B4 aut |
| 700 | 1 | a Kusumawardhani, AAAA4 aut |
| 700 | 1 | a Leghari, N4 aut |
| 700 | 1 | a Liu, XD4 aut |
| 700 | 1 | a Lori, A4 aut |
| 700 | 1 | a Loughland, CM4 aut |
| 700 | 1 | a Mahmood, K4 aut |
| 700 | 1 | a Mahmood, S4 aut |
| 700 | 1 | a Malaspina, D4 aut |
| 700 | 1 | a Malik, D4 aut |
| 700 | 1 | a McNaughton, A4 aut |
| 700 | 1 | a Michie, PT4 aut |
| 700 | 1 | a Michopolous, V4 aut |
| 700 | 1 | a Molina, E4 aut |
| 700 | 1 | a Molto, MD4 aut |
| 700 | 1 | a Munir, A4 aut |
| 700 | 1 | a Muntane, G4 aut |
| 700 | 1 | a Naeem, F4 aut |
| 700 | 1 | a Nancarrow, DJ4 aut |
| 700 | 1 | a Nasar, A4 aut |
| 700 | 1 | a Nasr, T4 aut |
| 700 | 1 | a Ohaeri, JU4 aut |
| 700 | 1 | a Ott, J4 aut |
| 700 | 1 | a Pantelis, C4 aut |
| 700 | 1 | a Periyasamy, S4 aut |
| 700 | 1 | a Pinto, AG4 aut |
| 700 | 1 | a Powers, A4 aut |
| 700 | 1 | a Ramos, B4 aut |
| 700 | 1 | a Rana, NH4 aut |
| 700 | 1 | a Rapaport, M4 aut |
| 700 | 1 | a Reichenberg, A4 aut |
| 700 | 1 | a Saker-Delye, S4 aut |
| 700 | 1 | a Schall, U4 aut |
| 700 | 1 | a Schofield, PR4 aut |
| 700 | 1 | a Scott, RJ4 aut |
| 700 | 1 | a Shanahan, M4 aut |
| 700 | 1 | a Weickert, CS4 aut |
| 700 | 1 | a Sjaarda, C4 aut |
| 700 | 1 | a Smith, HJ4 aut |
| 700 | 1 | a Suarez-Rama, JJ4 aut |
| 700 | 1 | a Tariq, M4 aut |
| 700 | 1 | a Thibaut, F4 aut |
| 700 | 1 | a Tooney, PA4 aut |
| 700 | 1 | a Umar, M4 aut |
| 700 | 1 | a Vilella, E4 aut |
| 700 | 1 | a Weiser, M4 aut |
| 700 | 1 | a Wu, JQ4 aut |
| 700 | 1 | a Yolken, R4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Nature geneticsd : Springer Science and Business Media LLCg 55:3, s. 369-+q 55:3<369-+x 1546-1718x 1061-4036 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:153291149 |
| 856 | 4 8 | u https://doi.org/10.1038/s41588-023-01305-1 |
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