Common heterozygous hemochromatosis gene mutations are risk factors for inflammation and fibrosis in chronic hepatitis C

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Background: Chronic hepatitis C is frequently associated with increased hepatic iron stores. It remains controversial whether heterozygous mutations of hemochromatosis genes affect fibrosis progression. Therefore our aim was to assess associations between HFE mutations and hepatic inflammation an...

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Bibliographic Details
Published in:Liver international 2004-08, Vol.24 (4), p.285-294
Main Authors: Geier, Andreas, Reugels, Michael, Weiskirchen, Ralf, Wasmuth, Hermann E., Dietrich, Christoph G., Siewert, Elmar, Gartung, Carsten, Lorenzen, Johann, Bosserhoff, Anja K., Brügmann, Marc, Gressner, Axel M., Matern, Siegfried, Lammert, Frank
Format: Article
Language:English
Subjects:
Adult
Aged
Cohort Studies
Female
Genotype
Germany - epidemiology
Hemochromatosis - epidemiology
Hemochromatosis - genetics
Hemochromatosis - pathology
Hemochromatosis Protein
hepatic fibrosis
hepatitis C virus
Hepatitis C, Chronic - epidemiology
Hepatitis C, Chronic - genetics
Hepatitis C, Chronic - pathology
Heterozygote
HFE gene
Histocompatibility Antigens Class I - genetics
Humans
Iron - metabolism
iron overload
Liver - metabolism
Liver - pathology
liver cirrhosis
Liver Cirrhosis - epidemiology
Liver Cirrhosis - genetics
Liver Cirrhosis - pathology
Liver Function Tests
liver iron accumulation
Male
Membrane Proteins - genetics
Middle Aged
Phenotype
Risk Factors
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Summary:: 
Background: Chronic hepatitis C is frequently associated with increased hepatic iron stores. It remains controversial whether heterozygous mutations of hemochromatosis genes affect fibrosis progression. Therefore our aim was to assess associations between HFE mutations and hepatic inflammation and stage of fibrosis in German hepatitis C patients. Methods: Liver biopsies from 166 patients were scored for inflammatory activity (A0–4) and hepatic fibrosis (F0–4). Gene mutations were determined by LightCycler, restriction fragment length polymorphism analysis, or direct sequencing. Results: The frequencies of common HFE mutations C282Y and H63D are 4.2% and 21.3%, whereas the recently described S65C substitution and the Y250X mutation in the transferrin receptor 2 gene are very rare. In regression analysis, heterozygous carriers of C282Y or H63D mutations display significantly (P
ISSN:1478-3223
1478-3231
DOI:10.1111/j.1478-3231.2004.0928.x