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

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.

• Authors: Pierre Nahon, Angela Sutton, Dominique Pessayre, Pierre Rufat, Nathalie Charnaux, Jean-Claude Trinchet, Michel Beaugrand, Yves Deugnier
• Journal: Antioxidants & redox signaling (Antioxid Redox Signal) Vol. 15 Issue 1 Pg. 31-8 (Jul 01 2011) ISSN: 1557-7716 [Electronic] United States
• PMID: 20673159 (Publication Type: Journal Article)

Chemical References

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

Topics

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