title: The role of Pannexin gene variants in schizophrenia: systematic analysis of phenotypes.
abstract: Pannexins are a group of brain-expressed channel proteins thought to be regulators of schizophrenia-linked pathways including glutamate release, synaptic plasticity and neural stem proliferation. We got evidence for linkage of a catatonic phenotype to the PANX2 locus in a family study. Aim of our study was to evaluate the role of Pannexins in schizophrenia and clinical phenotypes, particularly with regard to periodic catatonia. We genotyped six single-nucleotide polymorphisms at PANX1, five at PANX2 and three at PANX3 in 1173 German cases with schizophrenia according to DSM-5 and 480 controls. Our sample included 338 cases with periodic catatonia corresponding to Leonhard's classification. Association with schizophrenia according to DSM-5 was limited to genotype rs4838858-TT [p = 0.02, odds ratio (OR) 3.1] and haplotype rs4838858T-rs5771206G (p = 0.02, OR 2.7) at PANX2. We found no significant association with clinical phenotypes. Our limited findings do not support a major contribution of PANX1-3 to disease risk of schizophrenia according to DSM-5. We cannot confirm an association of the PANX2 loci at chromosome 22q13 with periodic catatonia.
authors.affiliation: Department of Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Füchsleinstraße 15, 97080, Würzburg, Germany. gawlik_m@ukw.de.
authors.forename: Micha
authors.identifier: http://orcid.org/0000-0002-2166-3992
authors.initials: M
authors.lastname: Gawlik
authors.affiliation: Department of Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Füchsleinstraße 15, 97080, Würzburg, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Wagner
authors.affiliation: Department of Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Füchsleinstraße 15, 97080, Würzburg, Germany.
authors.forename: Bruno
authors.initials: B
authors.lastname: Pfuhlmann
authors.affiliation: Department of Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Füchsleinstraße 15, 97080, Würzburg, Germany.
authors.forename: Gerald
authors.initials: G
authors.lastname: Stöber
mesh_terms: D016022:Case-Control Studies; D017630:Connexins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011569:Psychiatric Status Rating Scales; D012559:Schizophrenia / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D017630:Connexins
keywords: Catatonia; Clinical phenotype; Gap junction protein; Genetics; Schizophrenia