Polymorphisms of hemochromatosis, and alpha-1 antitrypsin genes in Egyptian HCV patients with and without hepatocellular carcinoma

Gene

Volumn 489, Issue 2, 2011, Pages 98-102

  Gharib, Amal F ^a   Karam, Rehab A ^a   Pasha, Heba F ^a   Radwan, Mohamed I ^a   Elsawy, Wael H ^a  

^a ZAGAZIG UNIVERSITY   (Egypt)

Author keywords

Alpha 1 antitrypsin; Hemochromatosis gene; Hepatitis C virus; Hepatocellular carcinoma; Polymerase chain reaction

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ADULT; ALLELE; ARTICLE; CLINICAL EVALUATION; CONTROLLED STUDY; DISEASE COURSE; EGYPT; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HEMOCHROMATOSIS; HEPATITIS C VIRUS; HUMAN; HUMAN TISSUE; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

ADULT; ALLELES; ALPHA 1-ANTITRYPSIN; CARCINOMA, HEPATOCELLULAR; DISEASE PROGRESSION; EGYPT; FEMALE; GENE FREQUENCY; GENOTYPE; HEPACIVIRUS; HEPATITIS C; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; LIVER CIRRHOSIS; LIVER NEOPLASMS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

HEPATITIS C VIRUS;

EID: 80054855693     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2011.08.010     Document Type: Article

References (35)

1. Acton R.T., et al. Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Ethn. Dis. 2006, 16:815-821.
2. Blanc J.F., et al. Increased incidence of HFE C282Y mutations in patients with iron overload and hepatocellular carcinoma developed in non-cirrhotic liver. J. Hepatol. 2000, 32:862-866.
3. Brantly M., Nukiwa T., Crystal R.G. Molecular basis of alpha-1-antitrypsin deficiency. Am. J. Med. 1988, 84:13-31.
4. Carlson J.A., et al. Accumulation of PiZ alpha1 antitrypsin causes liver damage in transgenic mice. J. Clin. Invest. 1989, 83:1183-1190.
5. Coakley R.J., Taggart C., O'Neill S., McElvaney N.G. Alpha1-antitrypsin deficiency: biological answers to clinical questions. Am. J. Med. Sci. 2001, 321:33-41.
6. Crystal R.G., et al. The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy. Chest 1989, 95:196-208.
7. De Serres F.J., et al. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest 2002, 122:1818-1829.
8. Deugnier Y. Iron and liver cancer. Alcohol 2003, 30:145-150.
9. Eisenbach C., Gehrke S.G., Stremmel W. Iron, the HFE gene, and hepatitis. C. Clin. Liver Dis. 2004, 8:775-785.
10. Elmberg M., et al. Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives. Gastroenterology 2003, 125:1733-1741.
11. El-Zayadi A.R., et al. Hepatocellular carcinoma in Egypt: a single center study over a decade. World J. Gastroenterol. 2005, 11(33):5193-5198.
12. Ezzikouri S., et al. Prevalence of common HFE and SERPINA1 mutations in patients with hepatocellular carcinoma in a Moroccan population. Arch. Med. Res. 2008, 236-241.
13. Fargion S., et al. Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis. Hepatology 1992, 15:655-659.
14. Feder J.N., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 1996, 13:399-408.
15. Fracanzani A.L., et al. Association between heterozygosity for HFE gene mutations and hepatitis viruses in hepatocellular carcinoma. Blood Cells Mol. Dis. 2005, 35:27-32.
16. Kew M.D. Pathogenesis of hepatocellular carcinoma in hereditary hemochromatosis: occurrence in non cirrhotic patients. Hepatology 1990, 11:1086-1087.
17. Kok K.F., et al. Heterozygous alpha-1 antitrypsin deficiency as a co-factor in the development of chronic liver disease: a review. Neth. J. Med. 2007, 65:160-166.
18. Lawless M.W., Mankan A.K., White M., O'Dwyer M.J., Norris S. Expression of hereditary hemochromatosis C282Y HFE protein in HEK293 cells activates specific endoplasmic reticulum stress responses. BMC Cell Biol. 2007, 8:30.
19. Levrero M. Viral hepatitis and liver cancer: the case of hepatitis C. Oncogene 2006, 25:3834-3847.
20. Llovet J.M., Fuster J., Bruix J. The Barcelona approach: diagnosis, staging, and treatment of hepatocellular carcinoma. Liver Transpl. 2004, 10:115-120.
21. Lodato F., et al. Hepatocellular carcinoma prevention: a worldwide emergence between the opulence of developed countries and the economic constraints of developing nations. World J. Gastroenterol. 2006, 12:7239-7249.
22. Lynas C. A cheaper and more rapid polymerase chain reaction restriction fragment length polymorphism method for the detection of the HLA-H gene mutations occurring in hereditary haemochromatosis. Blood 1997, 90(10):4235-4236.
23. Mah Y.H., et al. Prevalence and clinical implications of HFE gene mutations (C282Y and H63D) in patients with chronic hepatitis B and C in Taiwan. Liver Int. 2005, 25:214-219.
24. McLean C., Greene C.M., McElvaney N.G. Gene targeted therapeutics for liver disease in alpha-1 antitrypsin deficiency. Review. Biologics: Targets Therapy 2009, 3:63-75.
25. Okano H., et al. Treatment of hepatocellular carcinoma and the exacerbation of liver function. Int. J. Oncol. 2001, 19:1279-1282.
26. Perlmutter D.H. Pathogenesis of chronic liver injury and hepatocellular carcinoma in alpha-1-antitrypsin deficiency. Pediatr. Res. 2006, 60:233-238.
27. Rogers J., et al. The isolation of a clone for human alpha 1-antitrypsin and the detection of alpha 1-antitrypsin in mRNA from liver and leukocytes. Biochem. Biophys. Res. Commun. 1983, 116:375-382.
28. Roth M., et al. Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. Immunogenetics 1997, 46:222-225.
29. Settin A., El-Bendary M., Abo-Al-Kassem R., El Baz R. Molecular analysis of A1AT (S and Z) and HFE (C282Y and H63D) gene mutations in Egyptian cases with HCV liver cirrhosis. J. Gastrointestin. Liver Dis. 2006, 15(2):131-135.
30. SPSS for Windows Statistical Package for the Social Sciences, version 11.0.1 2001, SPSS Inc, Chicago.
31. Travis J., et al. Isolation and properties of recombinant DNA produced variants of human alpha1-proteinase inhibitor. J. Biol. Chem. 1985, 260:4384-4389.
32. Velazquez R.F., et al. Prospective analysis of risk factors for hepatocellular carcinoma in patients with liver cirrhosis. Hepatology 2003, 37:520-527.
33. Wagida A.A., Hussein M.K., Hassan A.A., Hani E., Christopher A.L. Changing pattern of hepatocellular carcinoma (HCC) and its risk factors in Egypt: possibilities for prevention. Review. Mutat. Res. 2008, 659:176-184.
34. Willis G., et al. Hepatocellular carcinoma and the penetrance of HFE C282Y mutations: a cross sectional study. BMC Gastroenterol. 2005, 5:17.
35. Zuntar I., Topic E., Jurcic Z., Zubcic A. Genotyping of alpha-antitrypsin in ten Croatian families. Clin. Biochem. 2000, 33:377-382.