title: 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.affiliation: Hôpital Jean Verdier, AP-HP, Service d'Hépatologie, Bondy, France. pierre.nahon@jvr.aphp.fr
authors.forename: Pierre
authors.initials: P
authors.lastname: Nahon
authors.forename: Angela
authors.initials: A
authors.lastname: Sutton
authors.forename: Dominique
authors.initials: D
authors.lastname: Pessayre
authors.forename: Pierre
authors.initials: P
authors.lastname: Rufat
authors.forename: Nathalie
authors.initials: N
authors.lastname: Charnaux
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Trinchet
authors.forename: Michel
authors.initials: M
authors.lastname: Beaugrand
authors.forename: Yves
authors.initials: Y
authors.lastname: Deugnier
mesh_terms: D000975:Antioxidants / Q000378:metabolism*; D006528:Carcinoma, Hepatocellular / Q000201:enzymology / Q000235:genetics; D005260:Female; D005838:Genotype; D005979:Glutathione Peroxidase / Q000235:genetics; D006432:Hemochromatosis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008103:Liver Cirrhosis / Q000201:enzymology / Q000235:genetics; D008113:Liver Neoplasms / Q000201:enzymology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009195:Peroxidase / Q000235:genetics; D013482:Superoxide Dismutase / Q000235:genetics; D000094765:Glutathione Peroxidase GPX1; D000099156:Superoxide Dismutase 2
chemical_list: D000975:Antioxidants; D005979:Glutathione Peroxidase; D009195:Peroxidase; D013482:Superoxide Dismutase; D000094765:Glutathione Peroxidase GPX1; D000099156:Superoxide Dismutase 2; C000722067:GPX1 protein, human