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We applied a systematic genomic approach based on karyotyping (n\u2009=\u20094), genotyping by genome-wide SNP array (n\u2009=\u200934) and whole-genome sequencing (n\u2009=\u200912). We performed genome-wide linkage analysis, family-based association analysis and polygenic risk score estimates. Significant linkage was obtained at chromosome 9 (9q33.1\u201333.2, LOD score\u2009=\u20094.11), a suggestive region that contains five candidate genes <jats:italic>ASTN2<\/jats:italic>, <jats:italic>BRINP1<\/jats:italic>, <jats:italic>C5<\/jats:italic>, <jats:italic>TLR4<\/jats:italic> and <jats:italic>TRIM32,<\/jats:italic> previously associated with MMDs. Comprehensive analysis associated the MMD phenotype with genes of the immune system with dual brain functions. Moreover, the psychotic phenotype was enriched for genes involved in synapsis. These results should be considered once studying the genetics of psychiatric disorders in other families, especially the ones from the same region, since founder effects may be related to the high prevalence.<\/jats:p>","DOI":"10.1038\/s41598-021-93555-4","type":"journal-article","created":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T10:03:50Z","timestamp":1626343430000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The conserved ASTN2\/BRINP1 locus at 9q33.1\u201333.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain"],"prefix":"10.1038","volume":"11","author":[{"given":"Josep","family":"Pol-Fuster","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Ca\u00f1ellas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Ruiz-Guerra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aina","family":"Medina-Dols","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e0rbara","family":"Bisbal-Carri\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernat","family":"Ortega-Vila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaume","family":"Llin\u00e0s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Hernandez-Rodriguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jer\u00f2nia","family":"Llad\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel","family":"Olmos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantin","family":"Strauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dami\u00e0","family":"Heine-Su\u00f1er","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Crist\u00f2fol","family":"Vives-Bauz\u00e0","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f2nia","family":"Flaquer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,15]]},"reference":[{"key":"93555_CR1","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1126\/science.aad6469","volume":"359","author":"MJ Gandal","year":"2018","unstructured":"Gandal, M. 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