Inflammatory bowel disease (IBD) locus 12: is glutathione peroxidase-1 (GPX1) the relevant gene?

Genes Immun. 2015 Dec;16(8):571-5. doi: 10.1038/gene.2015.35. Epub 2015 Sep 10.

Abstract

Genome-wide association studies have identified and repeatedly confirmed the association of rs3197999 in MST1 with inflammatory bowel disease (IBD). However, the underlying pathophysiology remains unclear. rs3197999 is a non-synonymous single-nucleotide polymorphism which modifies the function of macrophage stimulating protein-1 (MST1). We show by haplotyping that rs3197999 is in linkage disequilibrium with rs1050450 in GPX1, with almost complete cosegregation of the minor alleles. As shown by immunoassay, rs3197999 influences the MST-1 level in serum. But also rs1050450 causes an amino acid exchange in glutathione peroxidase 1 (GPx-1) and reduced activity of this antioxidant enzyme. The association of GPx deficiency and IBD in mice was already shown. We propose that GPx-1 is a better candidate than MST1 for the pathophysiologic link between IBD locus 12 and IBD.

MeSH terms

  • Adult
  • Aged
  • Animals
  • Female
  • Glutathione Peroxidase / genetics*
  • Glutathione Peroxidase / metabolism
  • Glutathione Peroxidase GPX1
  • Hepatocyte Growth Factor / genetics
  • Hepatocyte Growth Factor / metabolism
  • Humans
  • Inflammatory Bowel Diseases / enzymology
  • Inflammatory Bowel Diseases / genetics*
  • Inflammatory Bowel Diseases / physiopathology
  • Linkage Disequilibrium
  • Male
  • Mice
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism

Substances

  • Proto-Oncogene Proteins
  • macrophage stimulating protein
  • Hepatocyte Growth Factor
  • Glutathione Peroxidase
  • Glutathione Peroxidase GPX1