2026-04-29T08:12:59Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/233232024-11-28T21:12:43Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967
Repisalud author Pol-Fuster, Josep author Cañellas, Francesca author Ruiz-Guerra, Laura author Medina-Dols, Aina author Bisbal-Carrio, Barbara author Ortega-Vila, Bernat author Llinàs, Jaume author Hernandez-Rodriguez, Jessica author Llado, Jeronia author Olmos, Gabriel author Strauch, Konstantin author Heine-Suñer, Damián author Vives-Bauza, Cristofol author Flaquer, Antonia 2024-09-18T06:44:12Z 2024-09-18T06:44:12Z 2021-07-15 Pol-Fuster J, Canellas F, Ruiz-Guerra L, Medina-Dols A, Bisbal-Carrio B, Ortega-Vila B, et al. The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain. Sci Rep. 2021 Jul 15;11(1):14529. 2045-2322 https://hdl.handle.net/20.500.13003/19853 https://hdl.handle.net/20.500.12105/23323 34267256 10.1038/s41598-021-93555-4 Scientific Reports 2-s2.0-85110745519 675827900028 L635631836 We investigated the genetic causes of major mental disorders (MMDs) including schizophrenia, bipolar disorder I, major depressive disorder and attention deficit hyperactive disorder, in a large family pedigree from Alpujarras, South of Spain, a region with high prevalence of psychotic disorders. We applied a systematic genomic approach based on karyotyping (n=4), genotyping by genome-wide SNP array (n=34) and whole-genome sequencing (n=12). We performed genome-wide linkage analysis, family-based association analysis and polygenic risk score estimates. Significant linkage was obtained at chromosome 9 (9q33.1-33.2, LOD score=4.11), a suggestive region that contains five candidate genes ASTN2, BRINP1, C5, TLR4 and TRIM32, 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. eng The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain research article