Oesterreicher, C. H. and Datz, C. and Stickel, F. and Hellerbrand, Claus and Penz, M. and Hofer, H. and Wrba, F. and Penner, E. and Schuppan, D. and Ferenci, P. (2005) TGF-beta 1 codon 25 gene polymorphism is associated with cirrhosis in patients with hereditary hemochromatosis. CYTOKINE, 31 (2). pp. 142-148. ISSN 1043-4666, 1096-0023
Full text not available from this repository. (Request a copy)Abstract
Hereditary hemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism with variable penetrance. Only a minority of C282Y homozygotes develop clinical overt disease and cirrhosis. The phenotypic heterogeneity of HHC may be due to host genetic factors influencing fibrogenesis such as cytokine gene polymorphisms. In this respect, we investigated the impact of functional genetic polymorphisms of TGF-beta 1 (codon 10 Leu/Pro, codon 25 Arg/Pro), TNF-alpha (-308 G/A, -238 G/A) and angiotensinogen (-6 G/A) on the development of cirrhosis in HHC. One hundred and forty-nine (111 male, mean age: 51.0 +/- 12.9) C282Y homozygotes who underwent liver biopsy were Studied. Genotyping was performed by RFLP analysis. TGF-beta 1 codon 25 genotypes Arg/Pro and Pro/Pro were more common in patients with cirrhosis than in those without (23.6% vs. 7.4%, p = 0.005). In contrast, the distribution of TGF-beta 1 codon 10, TNF-alpha and angiotensinogen genotypes was not different. Logistic regression analysis identified male sex, age, serum ferritin and TGF-beta 1 codon 25 Arg/Pro and Pro/Pro as independent predictors for the presence of cirrhosis. The adjusted odds ratio for TGF-beta 1 codon 25 Arg/Pro and Pro/Pro was 2.8 (95% CI 1.4-5.7 p = 0.004). In conclusion, C282Y homozygotes carrying TGF-beta 1 genotypes Arg/Pro and Pro/Pro are more likely to develop cirrhosis than those with genotype Arg/Arg. (c) 2005 Elsevier Ltd. All rights reserved.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | TUMOR-NECROSIS-FACTOR; CHRONIC HEPATITIS-C; TRANSFORMING GROWTH-FACTOR-BETA-1 GENE; CHRONIC LIVER-DISEASE; LONG-TERM SURVIVAL; GROWTH-FACTOR; PHENOTYPIC-EXPRESSION; FACTOR-ALPHA; CLINICAL EXPRESSION; OXIDATIVE STRESS; cirrhosis; gene polymorphisms; hereditary hemochromatosis; liver; TGF-beta 1 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin I |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 04 May 2021 07:21 |
| Last Modified: | 04 May 2021 07:21 |
| URI: | https://pred.uni-regensburg.de/id/eprint/35872 |
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