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Pol-Fuster, J.* ; Canellas, F.* ; Ruiz-Guerra, L.* ; Medina-Dols, A.* ; Bisbal-Carrio, B.* ; Ortega-Vila, B.* ; Llinàs, J.* ; Hernandez-Rodriguez, J.* ; Llado, J.* ; Olmos, G.* ; Strauch, K. ; Heine-Suner, D.* ; Vives-Bauza, C.* ; Flaquer, A.

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. 11:14529 (2021)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Bipolar Affective-disorder; Copy Number Variation; De-novo; Diagnostic Interview; Structural Variation; Susceptibility Loci; Linkage Analysis; Schizophrenia; Genome; Rare
ISSN (print) / ISBN 2045-2322
e-ISSN 2045-2322
Journal Scientific Reports
Quellenangaben Volume: 11, Issue: 1, Pages: , Article Number: 14529 Supplement: ,
Publisher Nature Publishing Group
Publishing Place London
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Genetic Epidemiology (IGE)
Grants Direcció General de Política Universitària i Recerca, Govern de les Illes Balears
Instituto de Salud Carlos III
Ministerio de Educación, Cultura y Deporte