Background: To evaluate the role of genetic factors in the pathogenesis of porphyria cutanea tarda (PCT) and their association with chronic hepatitis C. Objective: To investigate the relations between hemochromatosis gene (HFE) mutations and PCT in the south of France and their links with chronic hepatitis C virus (HCV) infection. Methods: The genotype for the C282Y, H63D and S65C mutations of HFE was determined in 33 patients with PCT, 46 patients with HCV infection but without PCT and 58 controls. Iron status and HCV, HBV and HIV serologies were studied in all patients. Results: A statistically significant increase in the C282Y mutation was found in PCT patients. No difference was found for H63D or S65C mutations. The prevalence of HCV infection was higher in PCT patients than controls. Conclusions: C282Y mutations and HCV infection but not H63D or S65C mutations are PCT-triggering or associated factors in the south of France.
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