PubMed:10189855 JSONTXT

{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":67,"end":90},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":302,"end":318},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":511,"end":534},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":593,"end":616},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0043693"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0006507"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0043693"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0043693"}],"text":"Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.\nBACKGROUND: Iron overload is common in the livers of alcoholics and may play a role in disease pathogenesis. An MHC like gene, HFE, has recently been identified that is mutated in most patients with hereditary haemochromatosis (C282Y in 90% and H63D in 45% of the remainder).\nAIM: To examine the hypothesis that these mutations determine hepatic iron status in alcoholics and play a role in pre-disposition to advanced alcoholic liver disease.\nMETHODS: The HFE gene was genotyped in 257 patients with alcoholic liver disease and 117 locally matched healthy volunteers. In addition, iron staining was scored (0-4) on biopsy specimens from fibrotic/cirrhotic patients with and without HFE mutations matched for age and sex.\nRESULTS: Some 15.7% of fibrotic/cirrhotic patients were C282Y heterozygotes compared with 13.7% of controls (p = 0.77). One control and three patients were C282Y homozygotes. Of chromosomes without the C282Y mutation, 68/442 (15.4%) of patients' chromosomes carried the H63D mutation compared with 36/216 (16.6%) of control chromosomes (p = 0.91). Significant (\u003e grade 1) hepatocyte iron staining was seen in 6/23 C282Y heterozygotes and 4/26 H63D heterozygotes compared with 4/23 controls.\nCONCLUSIONS: Possession of a single copy of either of the two HFE mutations influences neither liver iron content nor the risk of fibrotic disease in alcoholics."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"10189855-2#119#124#geners1800562","span":{"begin":320,"end":325},"obj":"geners1800562"},{"id":"10189855-2#136#140#geners281860360","span":{"begin":337,"end":341},"obj":"geners281860360"},{"id":"10189855-2#136#140#geners1799945","span":{"begin":337,"end":341},"obj":"geners1799945"},{"id":"10189855-2#90#117#diseaseC0392514","span":{"begin":291,"end":318},"obj":"diseaseC0392514"}],"relations":[{"id":"119#124#geners180056290#117#diseaseC0392514","pred":"associated_with","subj":"10189855-2#119#124#geners1800562","obj":"10189855-2#90#117#diseaseC0392514"},{"id":"136#140#geners28186036090#117#diseaseC0392514","pred":"associated_with","subj":"10189855-2#136#140#geners281860360","obj":"10189855-2#90#117#diseaseC0392514"},{"id":"136#140#geners179994590#117#diseaseC0392514","pred":"associated_with","subj":"10189855-2#136#140#geners1799945","obj":"10189855-2#90#117#diseaseC0392514"}],"text":"Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.\nBACKGROUND: Iron overload is common in the livers of alcoholics and may play a role in disease pathogenesis. An MHC like gene, HFE, has recently been identified that is mutated in most patients with hereditary haemochromatosis (C282Y in 90% and H63D in 45% of the remainder).\nAIM: To examine the hypothesis that these mutations determine hepatic iron status in alcoholics and play a role in pre-disposition to advanced alcoholic liver disease.\nMETHODS: The HFE gene was genotyped in 257 patients with alcoholic liver disease and 117 locally matched healthy volunteers. In addition, iron staining was scored (0-4) on biopsy specimens from fibrotic/cirrhotic patients with and without HFE mutations matched for age and sex.\nRESULTS: Some 15.7% of fibrotic/cirrhotic patients were C282Y heterozygotes compared with 13.7% of controls (p = 0.77). One control and three patients were C282Y homozygotes. Of chromosomes without the C282Y mutation, 68/442 (15.4%) of patients' chromosomes carried the H63D mutation compared with 36/216 (16.6%) of control chromosomes (p = 0.91). Significant (\u003e grade 1) hepatocyte iron staining was seen in 6/23 C282Y heterozygotes and 4/26 H63D heterozygotes compared with 4/23 controls.\nCONCLUSIONS: Possession of a single copy of either of the two HFE mutations influences neither liver iron content nor the risk of fibrotic disease in alcoholics."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10189855-0#18#21#gene3077","span":{"begin":18,"end":21},"obj":"gene3077"},{"id":"10189855-0#67#90#diseaseC0023896","span":{"begin":67,"end":90},"obj":"diseaseC0023896"},{"id":"10189855-2#3#6#gene3107","span":{"begin":204,"end":207},"obj":"gene3107"},{"id":"10189855-2#18#21#gene3077","span":{"begin":219,"end":222},"obj":"gene3077"},{"id":"10189855-2#90#117#diseaseC0392514","span":{"begin":291,"end":318},"obj":"diseaseC0392514"}],"relations":[{"id":"18#21#gene307767#90#diseaseC0023896","pred":"associated_with","subj":"10189855-0#18#21#gene3077","obj":"10189855-0#67#90#diseaseC0023896"},{"id":"3#6#gene310790#117#diseaseC0392514","pred":"associated_with","subj":"10189855-2#3#6#gene3107","obj":"10189855-2#90#117#diseaseC0392514"},{"id":"18#21#gene307790#117#diseaseC0392514","pred":"associated_with","subj":"10189855-2#18#21#gene3077","obj":"10189855-2#90#117#diseaseC0392514"}],"text":"Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.\nBACKGROUND: Iron overload is common in the livers of alcoholics and may play a role in disease pathogenesis. An MHC like gene, HFE, has recently been identified that is mutated in most patients with hereditary haemochromatosis (C282Y in 90% and H63D in 45% of the remainder).\nAIM: To examine the hypothesis that these mutations determine hepatic iron status in alcoholics and play a role in pre-disposition to advanced alcoholic liver disease.\nMETHODS: The HFE gene was genotyped in 257 patients with alcoholic liver disease and 117 locally matched healthy volunteers. In addition, iron staining was scored (0-4) on biopsy specimens from fibrotic/cirrhotic patients with and without HFE mutations matched for age and sex.\nRESULTS: Some 15.7% of fibrotic/cirrhotic patients were C282Y heterozygotes compared with 13.7% of controls (p = 0.77). One control and three patients were C282Y homozygotes. Of chromosomes without the C282Y mutation, 68/442 (15.4%) of patients' chromosomes carried the H63D mutation compared with 36/216 (16.6%) of control chromosomes (p = 0.91). Significant (\u003e grade 1) hepatocyte iron staining was seen in 6/23 C282Y heterozygotes and 4/26 H63D heterozygotes compared with 4/23 controls.\nCONCLUSIONS: Possession of a single copy of either of the two HFE mutations influences neither liver iron content nor the risk of fibrotic disease in alcoholics."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":549,"end":552},"obj":"gene:3077"},{"id":"T1","span":{"begin":593,"end":616},"obj":"disease:C0023896"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease.\nBACKGROUND: Iron overload is common in the livers of alcoholics and may play a role in disease pathogenesis. An MHC like gene, HFE, has recently been identified that is mutated in most patients with hereditary haemochromatosis (C282Y in 90% and H63D in 45% of the remainder).\nAIM: To examine the hypothesis that these mutations determine hepatic iron status in alcoholics and play a role in pre-disposition to advanced alcoholic liver disease.\nMETHODS: The HFE gene was genotyped in 257 patients with alcoholic liver disease and 117 locally matched healthy volunteers. In addition, iron staining was scored (0-4) on biopsy specimens from fibrotic/cirrhotic patients with and without HFE mutations matched for age and sex.\nRESULTS: Some 15.7% of fibrotic/cirrhotic patients were C282Y heterozygotes compared with 13.7% of controls (p = 0.77). One control and three patients were C282Y homozygotes. Of chromosomes without the C282Y mutation, 68/442 (15.4%) of patients' chromosomes carried the H63D mutation compared with 36/216 (16.6%) of control chromosomes (p = 0.91). Significant (\u003e grade 1) hepatocyte iron staining was seen in 6/23 C282Y heterozygotes and 4/26 H63D heterozygotes compared with 4/23 controls.\nCONCLUSIONS: Possession of a single copy of either of the two HFE mutations influences neither liver iron content nor the risk of fibrotic disease in alcoholics."}