Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study from southern France.
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.
Chiavérini
Christine
C
Department of Dermatology, Archet-2 Hospital, Nice, France.
Halimi
Gilles
G
Ouzan
Denis
D
Halfon
Philippe
P
Ortonne
Jean-Paul
JP
Lacour
Jean-Philippe
JP
D005260:Female; D005602:France / Q000453:epidemiology; D005838:Genotype; D000071020:Hemochromatosis Protein; D006526:Hepatitis C / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D017119:Porphyria Cutanea Tarda / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D015995:Prevalence; D011446:Prospective Studies
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins