Tags

Type your tag names separated by a space and hit enter

Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients.
Liver Int. 2004 Feb; 24(1):16-20.LI

Abstract

AIM

It is not clear whether the mutations in hemochromatosis (HFE) gene and hepatitis C virus (HCV) infection act independently in the pathogenesis of porphyria cutanea tarda (PCT). The prevalence of both risk factors varies greatly in different parts of the world. PCT patients from Hungary were evaluated to assess both factors.

METHODS

The prevalence of C282Y and H63D mutations in the HFE gene was determined in 50 PCT patients and compared with the reported control frequencies. Furthermore, the presence of HCV infection was determined and related to the patients' HFE gene status.

RESULTS

The C282Y mutation was found in 8/50 cases (three homozygotes and five heterozygotes), with an 11% allele frequency (vs. 3.8% control) (P<0.05). Seventeen patients were heterozygous, one was homozygous for the H63D mutation, allele frequency 19%, which did not differ significantly from the reported control prevalence of 12.3%. Twenty-two patients (44%) were HCV-RNA positive; six out of them were heterozygous for H63D mutation, one only for the C282Y mutation and one was compound heterozygous for both mutations.

CONCLUSION

HCV infection and HFE C282Y mutation may probably be independent predisposing factors for development of PCT in Hungarian patients.

Authors+Show Affiliations

First Department of Medicine, Medical Faculty, University of Pécs, Pécs, Hungary.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15101996

Citation

Nagy, Zsuzsanna, et al. "Hemochromatosis (HFE) Gene Mutations and Hepatitis C Virus Infection as Risk Factors for Porphyria Cutanea Tarda in Hungarian Patients." Liver International : Official Journal of the International Association for the Study of the Liver, vol. 24, no. 1, 2004, pp. 16-20.
Nagy Z, Kószó F, Pár A, et al. Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients. Liver Int. 2004;24(1):16-20.
Nagy, Z., Kószó, F., Pár, A., Emri, G., Horkay, I., Horányi, M., Karádi, O., Rumi, G., Morvay, M., Varga, V., Dobozy, A., & Mózsik, G. (2004). Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients. Liver International : Official Journal of the International Association for the Study of the Liver, 24(1), 16-20.
Nagy Z, et al. Hemochromatosis (HFE) Gene Mutations and Hepatitis C Virus Infection as Risk Factors for Porphyria Cutanea Tarda in Hungarian Patients. Liver Int. 2004;24(1):16-20. PubMed PMID: 15101996.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients. AU - Nagy,Zsuzsanna, AU - Kószó,Ferenc, AU - Pár,Alajos, AU - Emri,Gabriella, AU - Horkay,Irén, AU - Horányi,Margit, AU - Karádi,Oszkár, AU - Rumi,György,Jr AU - Morvay,Márta, AU - Varga,Viktória, AU - Dobozy,Attila, AU - Mózsik,Gyula, PY - 2004/4/23/pubmed PY - 2004/5/28/medline PY - 2004/4/23/entrez SP - 16 EP - 20 JF - Liver international : official journal of the International Association for the Study of the Liver JO - Liver Int. VL - 24 IS - 1 N2 - AIM: It is not clear whether the mutations in hemochromatosis (HFE) gene and hepatitis C virus (HCV) infection act independently in the pathogenesis of porphyria cutanea tarda (PCT). The prevalence of both risk factors varies greatly in different parts of the world. PCT patients from Hungary were evaluated to assess both factors. METHODS: The prevalence of C282Y and H63D mutations in the HFE gene was determined in 50 PCT patients and compared with the reported control frequencies. Furthermore, the presence of HCV infection was determined and related to the patients' HFE gene status. RESULTS: The C282Y mutation was found in 8/50 cases (three homozygotes and five heterozygotes), with an 11% allele frequency (vs. 3.8% control) (P<0.05). Seventeen patients were heterozygous, one was homozygous for the H63D mutation, allele frequency 19%, which did not differ significantly from the reported control prevalence of 12.3%. Twenty-two patients (44%) were HCV-RNA positive; six out of them were heterozygous for H63D mutation, one only for the C282Y mutation and one was compound heterozygous for both mutations. CONCLUSION: HCV infection and HFE C282Y mutation may probably be independent predisposing factors for development of PCT in Hungarian patients. SN - 1478-3223 UR - https://www.unboundmedicine.com/medline/citation/15101996/Hemochromatosis__HFE__gene_mutations_and_hepatitis_C_virus_infection_as_risk_factors_for_porphyria_cutanea_tarda_in_Hungarian_patients_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&amp;sid=nlm:pubmed&amp;issn=1478-3223&amp;date=2004&amp;volume=24&amp;issue=1&amp;spage=16 DB - PRIME DP - Unbound Medicine ER -