Haplotype analysis of hemochromatosis gene polymorphisms in chronic hepatitis C virus infection : a case control study

Abstract EN

Background : Chronic hepatitis C virus (HCV) infection is frequently associated with elevated serum iron markers.

Polymorphisms in the hemochromatosis (HFE) genes are responsible for iron accumulation in most cases of hemochromatosis, and may play a role in HCV infection.

Objectives : We aimed to assess the prevalence of HFE gene polymorphisms in a group of Iranian HCV-infected patients, and to explore the association of these polymorphisms with HCV infection.

Patients and Methods: HFE gene polymorphisms were examined in a total of 69 HCV patients and 69 healthy controls using polymerase chain reaction and restriction fragment length polymorphism techniques.

Haplotype and diplotype analyses were performed using PHASE software.

Results: In a recessive analysismodelof the His63Asp (H63D) locus(HHvs.

HD+DD), theHHgenotypewasmorecommonin patients compared to controls (adjusted P = 0.012; OR = 6.42 [95% CI: 1.51 - 27.33]).

Also, in a recessive analysis model of the Cys282Tyr (C282Y) locus (CC vs.

CY + YY), the CC genotype was more frequent in patients compared to controls (adjusted P = 0.03; OR = 5.06 [95% CI: 1.13 - 22.06]).

In addition, there was a significant association between the HC haplotype and the HCDC diplotype and HCV infection.

Conclusions: Polymorphism in the hemochromatosis gene may confer some degree of risk for HCV infection, and individuals carrying the H and C alleles may be susceptible to this disease; however, a larger sample of HCV patients and healthy individuals may be necessary to further illustrate the role of these polymorphisms in HCV.