Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a group of Iranian Patients with Cryptogenic Cirrhosis

Jowkar, Zahra; Geramizadeh, Bita; Shariat, Mahmoud

doi:10.5812/kowsar.1735143x.781

Cited by 16 publications

(12 citation statements)

References 16 publications

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“…In addition, conflicting data on the correlation between overall liver cirrhosis and HFE gene mutations were observed. For instance, the polymorphisms of the HFE gene are not essential for cryptogenic cirrhosis in the southern Iranian population [ 50 ]. C282Y might be linked to the risk of HCC in patients with alcoholic-related cirrhosis [ 24 , 63 ].…”

Section: Discussionmentioning

confidence: 99%

Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls

Bian

Yin

et al. 2016

PLoS ONE

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BackgroundConflicting results have been obtained for the association between two common polymorphisms (C282Y, H63D) of human HFE (hereditary hemochromatosis) gene and the risks of the liver diseases, including non-alcoholic fatty liver disease (NAFLD), liver cirrhosis and hepatocellular carcinoma (HCC).MethodsAn updated systematic review and meta-analysis was conducted to evaluate the potential role of HFE polymorphisms in the susceptibility to NAFLD, liver cirrhosis and HCC. After retrieving articles from online databases, eligible studies were enrolled according to the selection criteria. Stata/SE 12.0 software was utilized to perform the statistical analysis.ResultsIn total, 43 articles with 5,758 cases and 14,741 controls were selected. Compared with the control group, a significantly increased risk of NAFLD was observed for the C282Y polymorphism in the Caucasian population under all genetic models and for the H63D polymorphism under the allele, heterozygote and dominant models (all OR>1, Passociation<0.05). However, no significant difference between liver cirrhosis cases and the control group was observed for HFE C282Y and H63D (all Passociation>0.05). In addition, we found that HFE C282Y was statistically associated with increased HCC susceptibility in the overall population, while H63D increased the odds of developing non-cirrhotic HCC in the African population (all OR>1, Passociation<0.05). Moreover, a positive association between compound heterozygosity for C282Y/H63D and the risk of NAFLD and HCC, but not liver cirrhosis, was observed.ConclusionOur meta-analysis provides evidence that the HFE C282Y and H63D polymorphisms confer increased genetic susceptibility to NAFLD and HCC but not liver cirrhosis. Additional well-powered studies are required to confirm our conclusion.

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Section: Discussionmentioning

confidence: 99%

Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls

Bian

Yin

et al. 2016

PLoS ONE

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“…Their HH patients were from the southern part of Iran, whereas our cases were mostly from the north; and this difference may account for the varied findings of these 2 studies. Recently, another report from southern Iran by Jowkar et al [34] showed no cases of either a homozygous or heterozygous C282Y mutation; however, heterozygosity of H63D mutation was detected in 22% of patients with cryptogenic cirrhosis and in 28% of the normal population. Either our study or Yavarian’s [11] or Jowkar’s [34] are not representative of different Iranian ethnic groups.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, another report from southern Iran by Jowkar et al [34] showed no cases of either a homozygous or heterozygous C282Y mutation; however, heterozygosity of H63D mutation was detected in 22% of patients with cryptogenic cirrhosis and in 28% of the normal population. Either our study or Yavarian’s [11] or Jowkar’s [34] are not representative of different Iranian ethnic groups. As mentioned, their samples mostly came from the south of the country, while ours were generally referred from the northern parts of Iran.…”

Section: Discussionmentioning

confidence: 99%

Iranian hereditary hemochromatosis patients: Baseline characteristics, laboratory data and gene mutations

et al. 2012

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SummaryBackgroundHereditary hemochromatosis (HH) is the most common autosomal recessive disorder in white people, characterized by highly abnormal uptake of iron from the gastrointestinal tracts. Recently, mutation studies have focused to detect the genes responsible for HH.Material/MethodsIn this cross-sectional study, 12 HH patients were recruited, who were referred to Firoozgar Hospital, Tehran, Iran. In addition to the clinical assessments, a complete laboratory evaluation, imaging modalities, histopathologic assessment, atomic absorption spectrophotometry and gene mutation study were performed. The genetic study for HFE gene mutation was examined for all of the patients since 2006, while non-HFE mutation was conducted since December 2010 (only for 1 of them).ResultsTwelve patients were evaluated consisting of 11 men and 1 woman, with the mean age of 39.58±12.68 yr. The average of atomic iron loads was 13.25±4.83-fold higher than normal standards. Four patients had heterozygotic mutation of H63D (33.3%). There was no significant difference in either the iron load of liver (P=0.927) and heart (P=0.164) or serum concentration of ferritin (P=0.907) and TIBC (P=0.937) between the HFE-mutant and without HFE mutation HH cases.ConclusionsIn contrast to other studies, C282Y mutation was not detected in any of our Iranian HH patients. Heterozygotic mutations of H63D (HFE) and TFR2 (non-HFE) genes were found to be more common in these patients. Similar to previous reports, these mutations were not found to be significantly associated with severity of presentation in HH patients.

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“…The patients' reluctance to admit to alcohol consumption along with the absence of advanced molecular techniques result in a higher number of false positive cases of cryptogenic cirrhosis in Iran. It is also not quite plausible to conclude that "HH is not a major cause of cryptogenic cirrhosis in the Iranian population" as Jowkar et al have indicated in their study [2]. Perhaps, the authors meant to say that the development of cirrhosis in these patients cannot be attributed to HFE mutations.…”

mentioning

confidence: 89%

“…In a study by Jowkar et al [2] published in the November issue of Hepatitis Monthly, the C282Y mutation was not detected in cryptogenic cirrhosis patients as well as healthy individuals; however, 22% of the patients and 28% of the healthy individuals were found to be heterozygous for the H63D mutation. Therefore, they concluded that HH is not the major cause of cryptogenic cirrhosis in the Iranian population.…”

mentioning

confidence: 99%

HFE Gene Mutations in Cryptogenic Cirrhosis Patients

Sendi

Mehrab-Mohseni

2012

Hepat Mon

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Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a group of Iranian Patients with Cryptogenic Cirrhosis

Cited by 16 publications

References 16 publications

Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls

Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls

Iranian hereditary hemochromatosis patients: Baseline characteristics, laboratory data and gene mutations

HFE Gene Mutations in Cryptogenic Cirrhosis Patients

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