Haplotype Analysis of Hemochromatosis Gene Polymorphisms in Chronic Hepatitis C Virus Infection: A Case Control Study

Abstract

BackgroundChronic 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.ObjectivesWe 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 MethodsHFE 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.ResultsIn a recessive analysis model of the His63Asp (H63D) locus (HH vs. HD + DD), the HH genotype was more common in 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.ConclusionsPolymorphism 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.

The High Frequency of the C282Y-Mutant HFE Gene in Northeast Iran; New Finding or Genotyping Error?

“…In conclusion, the frequency of the C282Y genotypes in individuals from northeast Iran should be investigated by another study using a valid method for confirmation of the results given by Gerayli et al (1). Moreover, it is very important to validate the results of the methods in molecular studies with another gold-standard method even if it was developed, used and described by others (8).…”

“…In a study, 91% of the population in United Kingdom with HH was found to be homozygous for C282Y while only 1% of the control group were homozygous for C282Y (3). We are writing this letter to express our concern regarding the results of the study done by Gerayli et al (1). They found a high prevalence (> 15%) of C282Y-mutant genotypes (CY and YY) in both groups of Iranian patients with hepatitis C as well as healthy individuals.…”

“…We read with great interest the article by Gerayli et al (1) in your esteemed journal recently. The authors assessed the H63D and C282Y polymorphisms of the HFE gene in Iranian patients from north east Iran with hepatitis C as well as healthy individuals.…”

TP53 single nucleotide polymorphism (rs1042522) in Iranian patients with coronary artery disease

“…The Arg72Pro functional polymorphism of TP53 has been widely assessed in cancer susceptibility studies that have yielded contradictory results. In Iran, investigations on this SNP in primary open angle glaucoma (50) and breast (25) and colorectal (21) cancers have indicated associations with disease risk, but no evidence of association has been identified in gastric (51,52) and head and neck (53) cancer, oral squamous cell carcinoma (54) and also hepatitis C infection (55).…”