Associations of common copy number variants in glutathione S-transferase mu 1 and D-dopachrome tautomerase-like protein genes with risk of schizophrenia in a Japanese population

Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):630-6. doi: 10.1002/ajmg.b.32347. Epub 2015 Jul 14.

Abstract

Oxidative-stress, genetic regions of interest (1p13 and 22q11), and common copy number variations (CNVs) may play roles in the pathophysiology of schizophrenia. In the present study, we confirmed associations between schizophrenia and the common CNVs in the glutathione (GSH)-related genes GSTT1, DDTL, and GSTM1 using quantitative real-time polymerase chain reaction analyses of 620 patients with schizophrenia and in 622 controls. No significant differences in GSTT1 copy number distributions were found between patient groups. However, frequencies of characterized CNVs and assumed gain alleles of DDTL and GSTM1 were significantly higher in patients with schizophrenia. In agreement with a previous report, the present data indicate that gains in the CNV alleles DDTL and GSTM1 are genetic risk factors in Japanese patients with schizophrenia, and suggest involvement of micro-inflammation and oxidative stress in the pathophysiology of schizophrenia.

Keywords: D-dopachrome tautomerase; copy number variants; glutathione S-transferase; risk factor; schizophrenia.

MeSH terms

  • Adult
  • DNA Copy Number Variations
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Glutathione Transferase / genetics*
  • Humans
  • Intramolecular Oxidoreductases / genetics*
  • Japan
  • Male
  • Middle Aged
  • Risk Factors
  • Schizophrenia / enzymology
  • Schizophrenia / genetics*

Substances

  • glutathione S-transferase T1
  • Glutathione Transferase
  • glutathione S-transferase M1
  • Intramolecular Oxidoreductases
  • dopachrome isomerase