The role of Pannexin gene variants in schizophrenia: systematic analysis of phenotypes

Eur Arch Psychiatry Clin Neurosci. 2016 Aug;266(5):433-7. doi: 10.1007/s00406-015-0619-8. Epub 2015 Jul 30.

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.

Keywords: Catatonia; Clinical phenotype; Gap junction protein; Genetics; Schizophrenia.

MeSH terms

  • Case-Control Studies
  • Connexins / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Male
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics*
  • Psychiatric Status Rating Scales
  • Schizophrenia / genetics*
  • Schizophrenia / physiopathology*

Substances

  • Connexins