{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:53:50Z","timestamp":1790823230942,"version":"4.1.0"},"reference-count":104,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T00:00:00Z","timestamp":1692144000000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"China Scholarship Council-University College London Joint Research Scholarship","award":["747429"],"award-info":[{"award-number":["747429"]}]},{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Institutes of Health. Isabelle Austin-Zimmerman","award":["G1100583"],"award-info":[{"award-number":["G1100583"]}]},{"name":"National Institutes of Health. Isabelle Austin-Zimmerman","award":["MR\/W020238\/1"],"award-info":[{"award-number":["MR\/W020238\/1"]}]},{"DOI":"10.13039\/501100000272","name":"National Institute of Health Research UK","doi-asserted-by":"crossref","award":["NIHR200756"],"award-info":[{"award-number":["NIHR200756"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Medical Research Council New Investigator Award","award":["G0901310"],"award-info":[{"award-number":["G0901310"]}]},{"name":"Medical Research Council New Investigator Award","award":["G1100583"],"award-info":[{"award-number":["G1100583"]}]},{"name":"Medical Research Council New Investigator Award","award":["PDA\/02\/06\/016"],"award-info":[{"award-number":["PDA\/02\/06\/016"]}]},{"name":"Medical Research Council New Investigator Award","award":["085475\/B\/08\/Z"],"award-info":[{"award-number":["085475\/B\/08\/Z"]}]},{"name":"Medical Research Council New Investigator Award","award":["085475\/Z\/08\/Z"],"award-info":[{"award-number":["085475\/Z\/08\/Z"]}]},{"name":"Medical Research Council New Investigator Award","award":["747429"],"award-info":[{"award-number":["747429"]}]},{"name":"Geestkracht program of the Dutch Health Research Council","award":["10-000-1001"],"award-info":[{"award-number":["10-000-1001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background and Hypothesis<\/jats:title>\n                  <jats:p>Endophenotypes can help to bridge the gap between psychosis and its genetic predispositions, but their underlying mechanisms remain largely unknown. This study aims to identify biological mechanisms that are relevant to the endophenotypes for psychosis, by partitioning polygenic risk scores into specific gene sets and testing their associations with endophenotypes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Study Design<\/jats:title>\n                  <jats:p>We computed polygenic risk scores for schizophrenia and bipolar disorder restricted to brain-related gene sets retrieved from public databases and previous publications. Three hundred and seventy-eight gene-set-specific polygenic risk scores were generated for 4506 participants. Seven endophenotypes were also measured in the sample. Linear mixed-effects models were fitted to test associations between each endophenotype and each gene-set-specific polygenic risk score.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Study Results<\/jats:title>\n                  <jats:p>After correction for multiple testing, we found that a reduced P300 amplitude was associated with a higher schizophrenia polygenic risk score of the forebrain regionalization gene set (mean difference per SD increase in the polygenic risk score: \u22121.15 \u00b5V; 95% CI: \u22121.70 to \u22120.59 \u00b5V; P = 6 \u00d7 10\u22125). The schizophrenia polygenic risk score of forebrain regionalization also explained more variance of the P300 amplitude (R2 = 0.032) than other polygenic risk scores, including the genome-wide polygenic risk scores.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Our finding on reduced P300 amplitudes suggests that certain genetic variants alter early brain development thereby increasing schizophrenia risk years later. Gene-set-specific polygenic risk scores are a useful tool to elucidate biological mechanisms of psychosis and endophenotypes, offering leads for experimental validation in cellular and animal models.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/schbul\/sbad088","type":"journal-article","created":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T00:37:35Z","timestamp":1692146255000},"page":"1625-1636","source":"Crossref","is-referenced-by-count":5,"title":["Psychosis Endophenotypes: A Gene-Set-Specific Polygenic Risk Score Analysis"],"prefix":"10.1093","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6986-8236","authenticated-orcid":false,"given":"Baihan","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Mental Health Neuroscience, Division of Psychiatry, University College London , London , UK"},{"name":"Nuffield Department of Population Health, University of Oxford , Oxford , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haritz","family":"Irizar","sequence":"additional","affiliation":[{"name":"Department of Mental Health Neuroscience, Division of Psychiatry, University College London , London , UK"},{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai , New York, NY , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan H","family":"Thygesen","sequence":"additional","affiliation":[{"name":"Department of Mental Health Neuroscience, Division of Psychiatry, University College London , London , UK"},{"name":"Institute of Health Informatics, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eirini","family":"Zartaloudi","sequence":"additional","affiliation":[{"name":"Department of Mental Health Neuroscience, Division of Psychiatry, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Austin-Zimmerman","sequence":"additional","affiliation":[{"name":"Department of Mental Health Neuroscience, Division of Psychiatry, University College London , London , UK"},{"name":"Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King\u2019s College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjali","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Mental Health Neuroscience, Division of Psychiatry, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9027-2119","authenticated-orcid":false,"given":"Jasmine","family":"Harju-Sepp\u00e4nen","sequence":"additional","affiliation":[{"name":"Department of Mental Health Neuroscience, Division of Psychiatry, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5680-3281","authenticated-orcid":false,"given":"Oliver","family":"Pain","sequence":"additional","affiliation":[{"name":"Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King\u2019s College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Bass","sequence":"additional","affiliation":[{"name":"Department of Mental Health Neuroscience, Division of Psychiatry, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasiliki","family":"Gkofa","sequence":"additional","affiliation":[{"name":"Department of Mental Health Neuroscience, Division of Psychiatry, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Behrooz Z","family":"Alizadeh","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Center Groningen, University Center for Psychiatry, Rob Giel Research Center , Groningen , The Netherlands"},{"name":"Department of Epidemiology, University Medical Center Groningen , Groningen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Therese","family":"van Amelsvoort","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience, Maastricht University Medical Center , Maastricht , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J","family":"Arranz","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3 Doc\u00e8ncia i Recerca Mutua Terrassa , Terrassa , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Salud Mental (CIBERSAM), Institut de Recerca Biom\u00e9dica Sant Pau (IIB-Sant Pau) , Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Bender","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Psychosomatic Medicine and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne , Cologne , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0482-8759","authenticated-orcid":false,"given":"Wiepke","family":"Cahn","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Brain Centre Rudolf Magnus, University Medical Center Utrecht, Utrecht University , Utrecht , The Netherlands"},{"name":"Altrecht, General Mental Health Care , Utrecht , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8757-635X","authenticated-orcid":false,"given":"Maria","family":"Stella 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