HFE Gene Mutations in Cryptogenic Cirrhosis Patients

Sendi, Hossein; Mehrab-Mohseni, Marjan

doi:10.5812/hepatmon.4315

Cited by 2 publications

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References 6 publications

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“…The C282Y polymorphism, in which a G nucleotide is changed to an A at nucleotide position 845 of the HFE gene, results in a substitution of cysteine amino acid with a tyrosine residue at codon 282 and the alpha-3 domain of the HFE gene product. The His63Asp (H63D) polymorphism, in which a C is changed to a G at nucleotide position 187 of the HFE gene, results in a replacement of amino acid 63 at the alpha-3 domain, which removes a histidine residue and substitutes it with an aspartic acid (13, 14). Studies have demonstrated that the C282Y polymorphism prevents the HFE gene product from binding to β-2 microglobulin and interferes with its presence on the cell surface.…”

Section: Introductionmentioning

confidence: 99%

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

Gerayli¹,

Pasdar²,

Shakeri³

et al. 2016

Iran Red Crescent Med J

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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.

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Section: Introductionmentioning

confidence: 99%

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

Gerayli¹,

Pasdar²,

Shakeri³

et al. 2016

Iran Red Crescent Med J

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“…I would like to thank Dr Sendi and Mohseni for their interest in our study.In this letter the authors have summarized the contributory effects of hereditary hemochromatosis (HH) in liver diseases in different populations [ 1 ]. I completely agree with them concerning the underlying causes of cryptogenic cirrhosis which in countries such as Iran is most commonly nonalcoholic steatohepatitis (NASH).…”

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confidence: 99%

Author’s Reply: HFE Gene Mutations (C282Y and H63D) in a Group of Patients With Cryptogenic Cirrhosis

Geramizadeh¹

2012

Hpat Mon

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HFE Gene Mutations in Cryptogenic Cirrhosis Patients

Cited by 2 publications

References 6 publications

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

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

Author’s Reply: HFE Gene Mutations (C282Y and H63D) in a Group of Patients With Cryptogenic Cirrhosis

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