Do genetic variations in antioxidant enzymes influence the course of hereditary hemochromatosis?

Antioxid Redox Signal. 2011 Jul 1;15(1):31-8. doi: 10.1089/ars.2010.3529. Epub 2010 Nov 30.

Abstract

Iron-induced oxidative stress promotes hepatic injury in hereditary hemochromatosis, which can be influenced by genetic traits affecting antioxidant enzymes. We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, and -463G/A-myeloperoxidase genotypes (high activity for the Ala, Pro, and G alleles, respectively) on the risks of cirrhosis and hepatocellular carcinoma (HCC) in patients homozygous for the C282Y-hemochromatosis (HFE) gene mutation. Both the 2G-myeloperoxidase genotype and carriage of one or two copies of the Ala-superoxide dismutase 2 allele were more frequent in patients with cirrhosis or HCC. Patients cumulating these two genetic traits had higher rates of cirrhosis and HCC than other patients.

MeSH terms

  • Antioxidants / metabolism*
  • Carcinoma, Hepatocellular / enzymology
  • Carcinoma, Hepatocellular / genetics
  • Female
  • Genotype
  • Glutathione Peroxidase / genetics
  • Glutathione Peroxidase GPX1
  • Hemochromatosis / enzymology
  • Hemochromatosis / genetics*
  • Humans
  • Liver Cirrhosis / enzymology
  • Liver Cirrhosis / genetics
  • Liver Neoplasms / enzymology
  • Liver Neoplasms / genetics
  • Male
  • Middle Aged
  • Peroxidase / genetics
  • Superoxide Dismutase / genetics

Substances

  • Antioxidants
  • Peroxidase
  • Glutathione Peroxidase
  • Superoxide Dismutase
  • superoxide dismutase 2
  • Glutathione Peroxidase GPX1
  • GPX1 protein, human