期刊文献+

Iron homeostasis and H63D mutations in alcoholics with and without liver disease 被引量:3

Iron homeostasis and H63D mutations in alcoholics with and without liver disease
下载PDF
导出
摘要 MM: To evaluate the prevalence of HFE gene mutation and indices of disturbed iron homeostasis in alcoholics with and without liver disease. METHODS: One hundred and fifty-three heavy drinkers (defined as alcohol consumption 〉 80 g/d for at least 5 years) were included in the study. These comprised 78 patients with liver disease [liver disease alcoholics (LDA)] in whom the presence of liver disease was confirmed by liver biopsy or clinical evidence of hepatic decompensation, and 75 subjects with no evidence of liver disease, determined by normal liver tests on two occasions [non-liver disease alcoholics (NLDA)], were consecutively enrolled. Serum markers of iron status and HFE C282Y and H63D mutations were determined. HFE genotyping was compared with data obtained in healthy blood donors from the same geographical area. RESULTS: Gender ratio was similar in both study groups. LDA patients were older than NLDA patients (52 ± 10 years vs 48 ± 11 years, P = 0.03). One third and one fifth of the study population had serum transferrin saturation (TS) greater than 45% and 60% respectively. Serum iron levels were similar in both groups. However, LDA patients had higher TS (51 ± 27 vs 36 ± 13, P 〈 0.001) and ferritin levels (559 ± 607 ng/mL vs 159 ± 122 ng/mL, P 〈 0.001), and lower total iron binding capacity (TIBC) (241 ± 88 μg/dL vs 279 ± 40 μg/dL, P = 0.001). The odds ratio for having liver disease with TS greater than 45% was 2.20 (95% confidence interval (CI): 1.37-3.54). There was no difference in C282Y allelic frequency between the two groups. However, H63D was more frequent in LDA patients (0.25 vs 0.16, P = 0.03). LDA patients had a greater probability of carrying at least one HFE mutation than NLDA patients (49.5% vs 31.6%, P = 0.02). The odds ratio for LDA in patients with H63D mutation was 1.57 (95% CI: 1.02-2.40). CONCLUSION: The present study confirms the presence of iron overload in alcoholics, which was more severe in the subset of subjects with liver disease, in parallel with an increased frequency of H63D HFE mutation. AIM: To evaluate the prevalence of HFE gene mutation and indices of disturbed iron homeostasis in alcoholics with and without liver disease.METHODS: One hundred and fifty-three heavy drinkers (defined as alcohol consumption > 80 g/d for at least 5 years) were included in the study. These comprised 78 patients with liver disease [liver disease alcoholics (LDA)] in whom the presence of liver disease was confirmed by liver biopsy or clinical evidence of hepatic decompensation, and 75 subjects with no evidence of liver disease, determined by normal liver tests on two occasions [non-liver disease alcoholics (NLDA)], were consecutively enrolled. Serum markers of iron status and HFE C282Y and H63D mutations were determined. HFE genotyping was compared with data obtained in healthy blood donors from the same geographical area.RESULTS: Gender ratio was similar in both study groups. LDA patients were older than NLDA patients (52 ± 10 years vs 48 ± 11 years, P = 0.03). One third and one fi fth of the study population had serum transferrin saturation (TS) greater than 45% and 60% respectively. Serum iron levels were similar in both groups. However, LDA patients had higher TS (51 ± 27 vs 36 ± 13, P < 0.001) and ferritin levels (559 ± 607 ng/mL vs 159 ± 122 ng/mL, P < 0.001), and lower total iron binding capacity (TIBC) (241 ± 88 μg/dL vs 279 ± 40 μg/dL, P = 0.001). The odds ratio for having liver disease with TS greater than 45% was 2.20 (95% confi dence interval (CI): 1.37-3.54). There was no difference in C282Y allelic frequency between the two groups. However, H63D was more frequent in LDA patients (0.25 vs 0.16, P = 0.03). LDA patients had a greater probability of carrying at least one HFE mutation than NLDA patients (49.5% vs 31.6%, P = 0.02). The odds ratio for LDA in patients with H63D mutation was 1.57 (95% CI: 1.02-2.40).CONCLUSION: The present study confirms the presence of iron overload in alcoholics, which was more severe in the subset of subjects with liver disease, in parallel with an increased frequency of H63D HFE mutation.
出处 《World Journal of Gastroenterology》 SCIE CAS CSCD 2009年第1期106-111,共6页 世界胃肠病学杂志(英文版)
关键词 Alcoholic liver disease Iron lIFE gene H63D HEMOCHROMATOSIS H63D突变 肝脏疾病 酗酒者 铁稳态 HFE基因 等位基因频率 血清标志物 转铁蛋白饱和度
  • 相关文献

参考文献1

共引文献9

同被引文献40

  • 1Barjinderjit Kaur Dhillon,Reena Das,Gurjeewan Garewal,Yogesh Chawla,RK Dhiman,Ashim Das,Ajay Duseja,GR Chandak.Frequency of primary iron overload and HFE gene mutations (C282Y,H63D and S65C) in chronic liver disease patients in north India[J].World Journal of Gastroenterology,2007,13(21):2956-2959. 被引量:5
  • 2Graca Porto,Maria De Sousa.Iron overload and immunity[J].World Journal of Gastroenterology,2007,13(35):4707-4715. 被引量:3
  • 3Nemeth E,Tuttle MS,Powelson J,et al.Hepcidin Regulates Cellular Iron Efflux by Binding to Ferroportin and Inducing Its InternalizationScience,2004.
  • 4Ellervik C,Birgens H,Tybjaerg-Hansen A,Nordestgaard BG.Hemochromatosis genotypes and risk of 31 disease endpoints:meta-analyses including 66,000 cases and 226,000 controls. Hepatology . 2007
  • 5Détivaud L,Nemeth E,Boudjema K,Turlin B,Troadec MB,Leroyer P,Ropert M,Jacquelinet S,Courselaud B,Ganz T,Brissot P,Loréal O.Hepcidin levels in humans are correlated with hepatic iron stores,hemoglobin levels,and hepatic function. Blood . 2005
  • 6Villeneuve JP,Bilodeau M,Lepage R, et al.Variability in hepatic iron concentration measurement from needle-biopsy specimens. Journal of Hepatology . 1996
  • 7Jason Samarasena MD,Wendy Winsor MD,Richard Lush MD,Peter Duggan MD,Yagang Xie MD, PhD,Mark Borgaonkar MD, MSc.Individuals Homozygous for the H63D Mutation Have Significantly Elevated Iron Indexes[J]. Digestive Diseases and Sciences . 2006 (4)
  • 8Phatak PD,Sham RL,Raubertas RF,Dunnigan K,O’’Leary MT,Braggins C,et al.Prevalence of hereditary hemochromatosis in 16031 primary care patients. Annals of Internal Medicine . 1998
  • 9Pietrangelo A.Hereditary hemochromatosis: pathogenesis, diagnosis,and treatment. Gastroenterology . 2010
  • 10European Association For The Study Of The Liver.EASL clinical practice guidelines for HFE hemochromatosis. Journal of Hepatology . 2010

引证文献3

二级引证文献13

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部