Literature DB >> 17160239

Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis.

Idilio Zamin1, Angelo Alves de Mattos, Angelo Zambam de Mattos, Eduardo Migon, Claudia Bica, Cláudio Osmar Pereira Alexandre.   

Abstract

BACKGROUND: Nonalcoholic steatohepatitis is a chronic liver disease with a high prevalence in the general population and a potential to evolve into cirrhosis. It is speculated that iron overload could be associated with liver injury and unfavorable progress in affected patients. AIMS: To evaluate the prevalence of mutation of the hemochromatosis gene (HFE) in patients with nonalcoholic steatohepatitis and to correlate it with histological findings in liver specimens. PATIENTS AND METHODS: Twenty-nine patients with nonalcoholic steatohepatitis were evaluated. The presence of mutation in the hemochromatosis gene (C282Y and H63D) was tested in all patients and its result was evaluated in relation to hepatic inflammatory activity, presence of fibrosis, and iron overload in the liver. The control group was composed of 20 patients with normal liver function tests and 20 patients infected with the hepatitis C virus, with elevated serum levels of aminotransferases and with chronic hepatitis as shown by biopsy.
RESULTS: Mutation of the hemochromatosis gene (C282Y and/or H63D) was diagnosed in 16 (55.2%) patients with nonalcoholic steatohepatitis, in 12 (60%) patients with hepatitis C and in 8 (40%) patients with no liver disease. No association was found between the presence of mutation and inflammatory activity, nor with the presence of fibrosis in patients with nonalcoholic steatohepatitis. An association was found between the presence of mutation and the occurrence of iron overload in liver, but there was no association between liver iron and the occurrence of fibrosis.
CONCLUSIONS: The findings suggest that iron does not play a major role in the pathogenesis and progression of nonalcoholic steatohepatitis, and routine tests of the hemochromatosis gene mutation in these patients should not be recommended.

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Year:  2006        PMID: 17160239     DOI: 10.1590/s0004-28032006000300013

Source DB:  PubMed          Journal:  Arq Gastroenterol        ISSN: 0004-2803


  7 in total

1.  Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with C282Y HFE mutations.

Authors:  James E Nelson; Elizabeth M Brunt; Kris V Kowdley
Journal:  Hepatology       Date:  2012-09-20       Impact factor: 17.425

Review 2.  Hemochromatosis gene and nonalcoholic fatty liver disease: a systematic review and meta-analysis.

Authors:  Ruben Hernaez; Edwina Yeung; Jeanne M Clark; Kris V Kowdley; Frederick L Brancati; Wen Hong Linda Kao
Journal:  J Hepatol       Date:  2011-02-24       Impact factor: 25.083

Review 3.  Iron metabolism in Nonalcoholic Fatty Liver Disease.

Authors:  James E Nelson; Heather Klintworth; Kris V Kowdley
Journal:  Curr Gastroenterol Rep       Date:  2012-02

4.  Iron overload causes oxidative stress and impaired insulin signaling in AML-12 hepatocytes.

Authors:  Donald J Messner; Byung Han Rhieu; Kris V Kowdley
Journal:  Dig Dis Sci       Date:  2013-04-05       Impact factor: 3.199

5.  Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a Group of Iranian Patients With Cryptogenic Cirrhosis.

Authors:  Zahra Jowkar; Bita Geramizadeh; Mahmoud Shariat
Journal:  Hepat Mon       Date:  2011-11-30       Impact factor: 0.660

6.  Systematic review of genetic association studies involving histologically confirmed non-alcoholic fatty liver disease.

Authors:  Kayleigh L Wood; Michael H Miller; John F Dillon
Journal:  BMJ Open Gastroenterol       Date:  2015-02-17

7.  Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls.

Authors:  Qing Ye; Bao-Xin Qian; Wei-Li Yin; Feng-Mei Wang; Tao Han
Journal:  PLoS One       Date:  2016-09-22       Impact factor: 3.240

  7 in total

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