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Porphyria cutanea tarda: the etiological importance of mutations in the HFE gene and viral infection is population-dependent.
Cell Mol Biol (Noisy-le-grand). 2002 Dec; 48(8):853-9.CM

Abstract

A number of factors, including increased iron stores and alcohol consumption, are known to be associated with the development of porphyria cutanea tarda (PCT) in susceptible individuals. Recent reports have described a significant association between inheritance of the C282Y and H63D mutations in the HFE gene, associated with genetic hemochromatosis (GH) and PCT. A strong association between hepatitis C virus infection and PCT has also been demonstrated, while case reports record a link between human immunodeficiency virus (HIV) and PCT. We have investigated the frequency of these factors in a racially-mixed population of patients with PCT in Cape Town, South Africa. 57 patients with PCT drawn from three ethnic groups were screened for the presence of the C282Y and H63D mutations linked to GH, and the prevalences were compared with corresponding healthy control populations. The seroprevalence of markers for HCV, hepatitis B (HBV) and HIV infection were examined in 28 of these. In the control populations, we found that both the C282Y and H63D mutations are highly prevalent in South Africans of European origin. In a population of mixed or Asian origin, the C282Y mutation is very rare whereas the H63D mutation is common. Neither mutation was encountered in any African subject. Both mutations are associated with PCT, but the association is dependent on the ethnic origins of the population to which the patient belongs. In contrast to other studies, HCV infection is numerically unimportant in PCT in our patients. HIV infection is increasingly encountered in our patients with PCT, but the strength of the association cannot be determined in view of the high background prevalence of HIV infection in some sectors of the South African population. The contribution of specific risk factors may be heavily dependent on the population from which patients are drawn, and care should be taken in extrapolating from observations in one racial or geographic population to any other.

Authors+Show Affiliations

MRC/UCT Liver Research Centre, Department of Medicine, University of Cape Town, Observatory, 7925 South Africa. rjh@uctgsh1.uct.ac.zaNo 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

12699243

Citation

Hift, R J., et al. "Porphyria Cutanea Tarda: the Etiological Importance of Mutations in the HFE Gene and Viral Infection Is Population-dependent." Cellular and Molecular Biology (Noisy-le-Grand, France), vol. 48, no. 8, 2002, pp. 853-9.
Hift RJ, Corrigall AV, Hancock V, et al. Porphyria cutanea tarda: the etiological importance of mutations in the HFE gene and viral infection is population-dependent. Cell Mol Biol (Noisy-le-grand). 2002;48(8):853-9.
Hift, R. J., Corrigall, A. V., Hancock, V., Kannemeyer, J., Kirsch, R. E., & Meissner, P. N. (2002). Porphyria cutanea tarda: the etiological importance of mutations in the HFE gene and viral infection is population-dependent. Cellular and Molecular Biology (Noisy-le-Grand, France), 48(8), 853-9.
Hift RJ, et al. Porphyria Cutanea Tarda: the Etiological Importance of Mutations in the HFE Gene and Viral Infection Is Population-dependent. Cell Mol Biol (Noisy-le-grand). 2002;48(8):853-9. PubMed PMID: 12699243.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Porphyria cutanea tarda: the etiological importance of mutations in the HFE gene and viral infection is population-dependent. AU - Hift,R J, AU - Corrigall,A V, AU - Hancock,V, AU - Kannemeyer,J, AU - Kirsch,R E, AU - Meissner,P N, PY - 2003/4/18/pubmed PY - 2003/9/27/medline PY - 2003/4/18/entrez SP - 853 EP - 9 JF - Cellular and molecular biology (Noisy-le-Grand, France) JO - Cell Mol Biol (Noisy-le-grand) VL - 48 IS - 8 N2 - A number of factors, including increased iron stores and alcohol consumption, are known to be associated with the development of porphyria cutanea tarda (PCT) in susceptible individuals. Recent reports have described a significant association between inheritance of the C282Y and H63D mutations in the HFE gene, associated with genetic hemochromatosis (GH) and PCT. A strong association between hepatitis C virus infection and PCT has also been demonstrated, while case reports record a link between human immunodeficiency virus (HIV) and PCT. We have investigated the frequency of these factors in a racially-mixed population of patients with PCT in Cape Town, South Africa. 57 patients with PCT drawn from three ethnic groups were screened for the presence of the C282Y and H63D mutations linked to GH, and the prevalences were compared with corresponding healthy control populations. The seroprevalence of markers for HCV, hepatitis B (HBV) and HIV infection were examined in 28 of these. In the control populations, we found that both the C282Y and H63D mutations are highly prevalent in South Africans of European origin. In a population of mixed or Asian origin, the C282Y mutation is very rare whereas the H63D mutation is common. Neither mutation was encountered in any African subject. Both mutations are associated with PCT, but the association is dependent on the ethnic origins of the population to which the patient belongs. In contrast to other studies, HCV infection is numerically unimportant in PCT in our patients. HIV infection is increasingly encountered in our patients with PCT, but the strength of the association cannot be determined in view of the high background prevalence of HIV infection in some sectors of the South African population. The contribution of specific risk factors may be heavily dependent on the population from which patients are drawn, and care should be taken in extrapolating from observations in one racial or geographic population to any other. SN - 0145-5680 UR - https://www.unboundmedicine.com/medline/citation/12699243/Porphyria_cutanea_tarda:_the_etiological_importance_of_mutations_in_the_HFE_gene_and_viral_infection_is_population_dependent_ L2 - http://www.diseaseinfosearch.org/result/5879 DB - PRIME DP - Unbound Medicine ER -