Heterozygosity for the hemochromatosis gene in liver diseases - prevalence and effects on liver histology
: Background/Aims: The effect of heterozygosity for the C282Y mutation in the HFE hemochromatosis gene on iron accumulation and disease progression in liver disease patients is unclear. Methods: We investigated the prevalence of this mutation in 531 patients and 205 healthy controls. In addition, we...
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| Veröffentlicht in: | Liver (Copenhagen) 2000-12, Vol.20 (6), p.482-486 |
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| creator | Höhler, Thomas Leininger, Sonja Köhler, Heinz H. Schirmacher, Peter Galle, Peter R. |
| description | : Background/Aims: The effect of heterozygosity for the C282Y mutation in the HFE hemochromatosis gene on iron accumulation and disease progression in liver disease patients is unclear. Methods: We investigated the prevalence of this mutation in 531 patients and 205 healthy controls. In addition, we assessed the influence of the mutation on liver histology in 34 C282Y heterozygous and 124 age‐, sex‐ and disease‐matched controls without the mutation using the modified HAI and Chevallier score. Results: The highest prevalence of the C282Y mutation was observed in patients with autoimmune hepatitis (17.2%, p |
| doi_str_mv | 10.1034/j.1600-0676.2000.020006482.x |
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Methods: We investigated the prevalence of this mutation in 531 patients and 205 healthy controls. In addition, we assessed the influence of the mutation on liver histology in 34 C282Y heterozygous and 124 age‐, sex‐ and disease‐matched controls without the mutation using the modified HAI and Chevallier score. Results: The highest prevalence of the C282Y mutation was observed in patients with autoimmune hepatitis (17.2%, p<0.01) compared to 6.4% in healthy controls. Heterozygotes with hepatitis C and B virus infection showed higher ferritin and hepatic iron concentrations than patients without the mutation. However, we did not detect significant differences in necroinflammatory or fibrosis scores between carriers of the mutation and controls. Conclusions: There are marked differences in the prevalence of the C282Y mutation in patients with different liver diseases, with the highest prevalence rates in autoimmune hepatitis and PBC. However, the C282Y mutation alone only leads to a mild increase in iron accumulation in the majority of the patients, with the exception of H63D/C282Y compound heterozygotes. We found no evidence for more pronounced fibrosis in C282Y heterozygotes.</description><identifier>ISSN: 0106-9543</identifier><identifier>EISSN: 1600-0676</identifier><identifier>DOI: 10.1034/j.1600-0676.2000.020006482.x</identifier><identifier>PMID: 11169063</identifier><identifier>CODEN: LIVEDR</identifier><language>eng</language><publisher>Copenhagen: Munksgaard International Publishers</publisher><subject>Adult ; autoimmune hepatitis ; Biological and medical sciences ; Biopsy ; C282Y mutation ; Female ; fibrosis ; Gene Frequency ; Germany - epidemiology ; hemochromatosis ; Hemochromatosis - epidemiology ; Hemochromatosis - genetics ; Hepatitis - epidemiology ; Hepatitis - genetics ; Hepatitis - pathology ; hepatitis B ; hepatitis C ; heterozygosity ; Heterozygote ; HFE-gene ; Humans ; Liver Cirrhosis, Biliary - epidemiology ; Liver Cirrhosis, Biliary - genetics ; Liver Cirrhosis, Biliary - pathology ; Male ; Medical sciences ; Metabolic diseases ; Metals (hemochromatosis...) ; Middle Aged ; Mutation ; Other metabolic disorders ; Prevalence ; primary biliary cirrhosis</subject><ispartof>Liver (Copenhagen), 2000-12, Vol.20 (6), p.482-486</ispartof><rights>2001 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5422-6ddb57c098ac40662972b0829094e648e034d7f1b94c5253eb134723e7cdd5d73</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1034%2Fj.1600-0676.2000.020006482.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1034%2Fj.1600-0676.2000.020006482.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=812933$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11169063$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Höhler, Thomas</creatorcontrib><creatorcontrib>Leininger, Sonja</creatorcontrib><creatorcontrib>Köhler, Heinz H.</creatorcontrib><creatorcontrib>Schirmacher, Peter</creatorcontrib><creatorcontrib>Galle, Peter R.</creatorcontrib><title>Heterozygosity for the hemochromatosis gene in liver diseases - prevalence and effects on liver histology</title><title>Liver (Copenhagen)</title><addtitle>Liver</addtitle><description>: Background/Aims: The effect of heterozygosity for the C282Y mutation in the HFE hemochromatosis gene on iron accumulation and disease progression in liver disease patients is unclear. Methods: We investigated the prevalence of this mutation in 531 patients and 205 healthy controls. In addition, we assessed the influence of the mutation on liver histology in 34 C282Y heterozygous and 124 age‐, sex‐ and disease‐matched controls without the mutation using the modified HAI and Chevallier score. Results: The highest prevalence of the C282Y mutation was observed in patients with autoimmune hepatitis (17.2%, p<0.01) compared to 6.4% in healthy controls. Heterozygotes with hepatitis C and B virus infection showed higher ferritin and hepatic iron concentrations than patients without the mutation. However, we did not detect significant differences in necroinflammatory or fibrosis scores between carriers of the mutation and controls. Conclusions: There are marked differences in the prevalence of the C282Y mutation in patients with different liver diseases, with the highest prevalence rates in autoimmune hepatitis and PBC. However, the C282Y mutation alone only leads to a mild increase in iron accumulation in the majority of the patients, with the exception of H63D/C282Y compound heterozygotes. We found no evidence for more pronounced fibrosis in C282Y heterozygotes.</description><subject>Adult</subject><subject>autoimmune hepatitis</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>C282Y mutation</subject><subject>Female</subject><subject>fibrosis</subject><subject>Gene Frequency</subject><subject>Germany - epidemiology</subject><subject>hemochromatosis</subject><subject>Hemochromatosis - epidemiology</subject><subject>Hemochromatosis - genetics</subject><subject>Hepatitis - epidemiology</subject><subject>Hepatitis - genetics</subject><subject>Hepatitis - pathology</subject><subject>hepatitis B</subject><subject>hepatitis C</subject><subject>heterozygosity</subject><subject>Heterozygote</subject><subject>HFE-gene</subject><subject>Humans</subject><subject>Liver Cirrhosis, Biliary - epidemiology</subject><subject>Liver Cirrhosis, Biliary - genetics</subject><subject>Liver Cirrhosis, Biliary - pathology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metals (hemochromatosis...)</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Other metabolic disorders</subject><subject>Prevalence</subject><subject>primary biliary cirrhosis</subject><issn>0106-9543</issn><issn>1600-0676</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkF1v0zAUhi3ExMrgLyBLIO4S_BHbtcQNVGObqIaQYEjcWI5z0rokcbHT0fDrSdSuu-bGR9Z5zmufB6E3lOSU8OLdJqeSkIxIJXNGCMnJdMpizvL9EzQ7NZ-iGaFEZloU_Bw9T2lDCJWFEs_QOaVUaiL5DPlr6CGGv8MqJN8PuA4R92vAa2iDW8fQ2n5sJLyCDrDvcOPvIeLKJ7AJEs7wNsK9baBzgG1XYahrcH3C4QFd-9SHJqyGF-istk2Cl8d6gb5_uvy2uM6WX65uFh-WmRMFY5msqlIoR_TcuoJIybRiJZkzTXQB45YwOqhUTUtdOMEEh5LyQjEOylWVqBS_QG8PudsYfu8g9ab1yUHT2A7CLhnFBNOS0RF8fwBdDClFqM02-tbGwVBiJtVmYyabZrJpJsnmpNrsx_FXx3d2ZQvV4_DR7Qi8PgI2OdvU0XbOpxM3p0zzibo8UH98A8N_fcEsb-4ebmNOdsgZfcP-lGPjLyMVV8L8uL0yd181__lxcWs-83-9Zqrn</recordid><startdate>200012</startdate><enddate>200012</enddate><creator>Höhler, Thomas</creator><creator>Leininger, Sonja</creator><creator>Köhler, Heinz H.</creator><creator>Schirmacher, Peter</creator><creator>Galle, Peter R.</creator><general>Munksgaard International Publishers</general><general>Munksgaard</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200012</creationdate><title>Heterozygosity for the hemochromatosis gene in liver diseases - prevalence and effects on liver histology</title><author>Höhler, Thomas ; Leininger, Sonja ; Köhler, Heinz H. ; Schirmacher, Peter ; Galle, Peter R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5422-6ddb57c098ac40662972b0829094e648e034d7f1b94c5253eb134723e7cdd5d73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adult</topic><topic>autoimmune hepatitis</topic><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>C282Y mutation</topic><topic>Female</topic><topic>fibrosis</topic><topic>Gene Frequency</topic><topic>Germany - epidemiology</topic><topic>hemochromatosis</topic><topic>Hemochromatosis - epidemiology</topic><topic>Hemochromatosis - genetics</topic><topic>Hepatitis - epidemiology</topic><topic>Hepatitis - genetics</topic><topic>Hepatitis - pathology</topic><topic>hepatitis B</topic><topic>hepatitis C</topic><topic>heterozygosity</topic><topic>Heterozygote</topic><topic>HFE-gene</topic><topic>Humans</topic><topic>Liver Cirrhosis, Biliary - epidemiology</topic><topic>Liver Cirrhosis, Biliary - genetics</topic><topic>Liver Cirrhosis, Biliary - pathology</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metals (hemochromatosis...)</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Other metabolic disorders</topic><topic>Prevalence</topic><topic>primary biliary cirrhosis</topic><toplevel>online_resources</toplevel><creatorcontrib>Höhler, Thomas</creatorcontrib><creatorcontrib>Leininger, Sonja</creatorcontrib><creatorcontrib>Köhler, Heinz H.</creatorcontrib><creatorcontrib>Schirmacher, Peter</creatorcontrib><creatorcontrib>Galle, Peter R.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Liver (Copenhagen)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Höhler, Thomas</au><au>Leininger, Sonja</au><au>Köhler, Heinz H.</au><au>Schirmacher, Peter</au><au>Galle, Peter R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Heterozygosity for the hemochromatosis gene in liver diseases - prevalence and effects on liver histology</atitle><jtitle>Liver (Copenhagen)</jtitle><addtitle>Liver</addtitle><date>2000-12</date><risdate>2000</risdate><volume>20</volume><issue>6</issue><spage>482</spage><epage>486</epage><pages>482-486</pages><issn>0106-9543</issn><eissn>1600-0676</eissn><coden>LIVEDR</coden><abstract>: Background/Aims: The effect of heterozygosity for the C282Y mutation in the HFE hemochromatosis gene on iron accumulation and disease progression in liver disease patients is unclear. Methods: We investigated the prevalence of this mutation in 531 patients and 205 healthy controls. In addition, we assessed the influence of the mutation on liver histology in 34 C282Y heterozygous and 124 age‐, sex‐ and disease‐matched controls without the mutation using the modified HAI and Chevallier score. Results: The highest prevalence of the C282Y mutation was observed in patients with autoimmune hepatitis (17.2%, p<0.01) compared to 6.4% in healthy controls. Heterozygotes with hepatitis C and B virus infection showed higher ferritin and hepatic iron concentrations than patients without the mutation. However, we did not detect significant differences in necroinflammatory or fibrosis scores between carriers of the mutation and controls. Conclusions: There are marked differences in the prevalence of the C282Y mutation in patients with different liver diseases, with the highest prevalence rates in autoimmune hepatitis and PBC. However, the C282Y mutation alone only leads to a mild increase in iron accumulation in the majority of the patients, with the exception of H63D/C282Y compound heterozygotes. We found no evidence for more pronounced fibrosis in C282Y heterozygotes.</abstract><cop>Copenhagen</cop><pub>Munksgaard International Publishers</pub><pmid>11169063</pmid><doi>10.1034/j.1600-0676.2000.020006482.x</doi><tpages>5</tpages></addata></record> |
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| subjects | Adult autoimmune hepatitis Biological and medical sciences Biopsy C282Y mutation Female fibrosis Gene Frequency Germany - epidemiology hemochromatosis Hemochromatosis - epidemiology Hemochromatosis - genetics Hepatitis - epidemiology Hepatitis - genetics Hepatitis - pathology hepatitis B hepatitis C heterozygosity Heterozygote HFE-gene Humans Liver Cirrhosis, Biliary - epidemiology Liver Cirrhosis, Biliary - genetics Liver Cirrhosis, Biliary - pathology Male Medical sciences Metabolic diseases Metals (hemochromatosis...) Middle Aged Mutation Other metabolic disorders Prevalence primary biliary cirrhosis |
| title | Heterozygosity for the hemochromatosis gene in liver diseases - prevalence and effects on liver histology |
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