{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T18:04:38Z","timestamp":1788545078289,"version":"build-2803163510"},"reference-count":72,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,4,7]],"date-time":"2025-04-07T00:00:00Z","timestamp":1743984000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ricerca Sanitaria Finalizzata 2004 and 2005, Giunta Regionale del Veneto"},{"name":"Fondazione Cariverona"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Psychosis, particularly schizophrenia (SZ), is influenced by genetic and environmental factors. The neurodevelopmental hypothesis suggests that genetic factors affect neuronal circuit connectivity during perinatal periods, hence causing the onset of the diseases. In this study, we performed a genome-wide association study (GWAS) in a sample of the first episode of psychosis (FEP). Methods: A sample of 147 individuals diagnosed with non-affective psychosis and 102 controls were recruited and assessed. After venous blood and DNA extraction, the samples were genotyped. Genetic data underwent quality controls, genotype imputation, and a case-control genome-wide association study (GWAS). After the GWAS, results were investigated using an in silico functional mapping and annotation approach. Results: Our GWAS showed the association of 27 variants across 13 chromosomes at genome-wide significance (p &lt; 1 \u00d7 10\u22127) and a total of 1976 candidate variants across 188 genes at suggestive significance (p &lt; 1 \u00d7 10\u22125), mostly mapping in non-coding or intergenic regions. Gene-based tests reported the association of the SUFU (p = 4.8 \u00d7 10\u22127) and NCAN (p = 1.6 \u00d7 10\u22125) genes. Gene-sets enrichment analyses showed associations in the early stages of life, spanning from 12 to 24 post-conception weeks (p &lt; 1.4 \u00d7 10\u22123) and in the late prenatal period (p = 1.4 \u00d7 10\u22123), in favor of the neurodevelopmental hypothesis. Moreover, several matches with the GWAS Catalog reported associations with strictly related traits, such as SZ, as well as with autism spectrum disorder, which shares some genetic overlap, and risk factors, such as neuroticism and alcohol dependence. Conclusions: The resulting genetic associations and the consequent functional analysis displayed common genetic liability between the non-affective psychosis, related traits, and risk factors. In sum, our investigation provided novel hints supporting the neurodevelopmental hypothesis in SZ and\u2014in general\u2014in non-affective psychoses.<\/jats:p>","DOI":"10.3390\/genes16040439","type":"journal-article","created":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T05:59:00Z","timestamp":1744091940000},"page":"439","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Genome-Wide Association Study of First-Episode Psychosis: A Genetic Exploration in an Italian Cohort"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9175-9455","authenticated-orcid":false,"given":"Mirko","family":"Treccani","sequence":"first","affiliation":[{"name":"GM Lab, Department of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1231-3150","authenticated-orcid":false,"given":"Lucia","family":"Maggioni","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences, Section of Psychiatry, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Di Giovanni","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Public Health, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0413-6031","authenticated-orcid":false,"given":"Laura","family":"Veschetti","sequence":"additional","affiliation":[{"name":"Infections and Cystic Fibrosis Unit, Division of Immunology, Transplantation and Infectious Diseases, IRCCS San Raffaele Scientific Institute, 20123 Milano, Italy"},{"name":"Vita-Salute San Raffaele University, 20123 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doriana","family":"Cristofalo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences, Section of Psychiatry, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8678-9337","authenticated-orcid":false,"given":"Cristina","family":"Patuzzo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9963-6081","authenticated-orcid":false,"given":"Antonio","family":"Lasalvia","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences, Section of Psychiatry, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Branko","family":"Ristic","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences, Section of Psychiatry, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roushan","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences, Section of Psychiatry, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The PICOS-Veneto Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Ruggeri","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences, Section of Psychiatry, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9895-6403","authenticated-orcid":false,"given":"Chiara","family":"Bonetto","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences, Section of Psychiatry, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8705-8560","authenticated-orcid":false,"given":"Giovanni","family":"Malerba","sequence":"additional","affiliation":[{"name":"GM Lab, Department of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9665-7538","authenticated-orcid":false,"given":"Sarah","family":"Tosato","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences, Section of Psychiatry, University of Verona, 37134 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association (2013). 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