{"id":{"repo_id":"aachen","oai_identifier":"oai:publications.rwth-aachen.de:59437"},"canonical_url":"https://search.dev.ndltd.org/etd/aachen/oai:publications.rwth-aachen.de:59437","repository":{"repo_id":"aachen","name":"RWTH Aachen University","base_url":"https://publications.rwth-aachen.de/oai2d"},"display":{"title":"Heterozygote Hämochromatose-Genmutationen als genetische Progressionsfaktoren bei chronischer Hepatitis C","abstract":"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, RFLP 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 < 0.05) higher inflammatory activities and more advanced fibrosis than patients without mutations. C282Y mutations are associated with significantly (P < 0.05) increased serum iron and aminotransferase levels, whereas H63D heterozygotes display higher transferrin saturation, serum iron, and ferritin concentrations compared to wild-type heterozygotes (P < 0.01). Conclusions: Common heterozygous hemochromatosis mutations are associated with higher grades of inflammation and more severe hepatic fibrosis. Our findings support a role of HFE mutations as primary risk factors for fibrogenesis and disease progression in chronic hepatitis C.","abstract_html":"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, RFLP 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 &lt; 0.05) higher inflammatory activities and more advanced fibrosis than patients without mutations. C282Y mutations are associated with significantly (P &lt; 0.05) increased serum iron and aminotransferase levels, whereas H63D heterozygotes display higher transferrin saturation, serum iron, and ferritin concentrations compared to wild-type heterozygotes (P &lt; 0.01). Conclusions: Common heterozygous hemochromatosis mutations are associated with higher grades of inflammation and more severe hepatic fibrosis. Our findings support a role of HFE mutations as primary risk factors for fibrogenesis and disease progression in chronic hepatitis C.","abstract_has_math":false,"creators":["Reugels, Michael Josef"],"institution":"Publikationsserver der RWTH Aachen University","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":["Matern, Siegfried"],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2004,"date_issued":"2004","date_published":"2004","updated_at":"2026-07-30T19:42:39Z","subjects":["info:eu-repo/classification/ddc/610","Medizin"],"languages":["ger"],"rights":["info:eu-repo/semantics/openAccess"],"rights_urls":[],"identifier_entries":[{"key":"dc:identifier","label":"Identifier","values":["https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-121222%22"],"render_values":[{"text":"https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-121222%22","href":"https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-121222%22","code":true}]}]},"links":{"outbound_url":"https://publications.rwth-aachen.de/record/59437","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["Matern, Siegfried"]},{"key":"dc:creator","label":"Author","values":["Reugels, Michael Josef"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:coverage","label":"Dc Coverage","values":["DE"]},{"key":"dc:date","label":"Dc Date","values":["2004"]},{"key":"dc:publisher","label":"Institution","values":["Publikationsserver der RWTH Aachen University"]},{"key":"dc:relation","label":"Dc Relation","values":["info:eu-repo/semantics/altIdentifier/doi/10.18154/RWTH-CONV-121222","info:eu-repo/semantics/altIdentifier/urn/urn:nbn:de:hbz:82-opus-7855"]},{"key":"dc:type","label":"Dc Type","values":["info:eu-repo/semantics/doctoralThesis","info:eu-repo/semantics/publishedVersion"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["info:eu-repo/classification/ddc/610","Medizin"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language","label":"Dc Language","values":["ger"]},{"key":"dc:rights","label":"Dc Rights","values":["info:eu-repo/semantics/openAccess"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://publications.rwth-aachen.de/record/59437","https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-121222%22"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["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, RFLP 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 < 0.05) higher inflammatory activities and more advanced fibrosis than patients without mutations. C282Y mutations are associated with significantly (P < 0.05) increased serum iron and aminotransferase levels, whereas H63D heterozygotes display higher transferrin saturation, serum iron, and ferritin concentrations compared to wild-type heterozygotes (P < 0.01). Conclusions: Common heterozygous hemochromatosis mutations are associated with higher grades of inflammation and more severe hepatic fibrosis. Our findings support a role of HFE mutations as primary risk factors for fibrogenesis and disease progression in chronic hepatitis C."]},{"key":"dc:source","label":"Dc Source","values":["Aachen : Publikationsserver der RWTH Aachen University III, 72 S. : Ill., graph. Darst. (2004). doi:10.18154/RWTH-CONV-121222 = Aachen, Techn. Hochsch., Diss., 2004"]},{"key":"dc:title","label":"Title","values":["Heterozygote Hämochromatose-Genmutationen als genetische Progressionsfaktoren bei chronischer Hepatitis C"]}]}],"canonical_facts":{"dc:contributor":["Matern, Siegfried"],"dc:coverage":["DE"],"dc:creator":["Reugels, Michael Josef"],"dc:date":["2004"],"dc:description":["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, RFLP 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 < 0.05) higher inflammatory activities and more advanced fibrosis than patients without mutations. C282Y mutations are associated with significantly (P < 0.05) increased serum iron and aminotransferase levels, whereas H63D heterozygotes display higher transferrin saturation, serum iron, and ferritin concentrations compared to wild-type heterozygotes (P < 0.01). Conclusions: Common heterozygous hemochromatosis mutations are associated with higher grades of inflammation and more severe hepatic fibrosis. Our findings support a role of HFE mutations as primary risk factors for fibrogenesis and disease progression in chronic hepatitis C."],"dc:identifier":["https://publications.rwth-aachen.de/record/59437","https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-121222%22"],"dc:language":["ger"],"dc:publisher":["Publikationsserver der RWTH Aachen University"],"dc:relation":["info:eu-repo/semantics/altIdentifier/doi/10.18154/RWTH-CONV-121222","info:eu-repo/semantics/altIdentifier/urn/urn:nbn:de:hbz:82-opus-7855"],"dc:rights":["info:eu-repo/semantics/openAccess"],"dc:source":["Aachen : Publikationsserver der RWTH Aachen University III, 72 S. : Ill., graph. Darst. (2004). doi:10.18154/RWTH-CONV-121222 = Aachen, Techn. Hochsch., Diss., 2004"],"dc:subject":["info:eu-repo/classification/ddc/610","Medizin"],"dc:title":["Heterozygote Hämochromatose-Genmutationen als genetische Progressionsfaktoren bei chronischer Hepatitis C"],"dc:type":["info:eu-repo/semantics/doctoralThesis","info:eu-repo/semantics/publishedVersion"]},"updated_at":"2026-07-30T19:42:39Z"}