Genomics Inform.  2009 Dec;7(4):187-194.

Identification of Polymorphisms in CYP2E1 Gene and Association Analysis among Chronic HBV Patients

  • 1Department of Life Science, Sogang University, Seoul 121-742, Korea.
  • 2Department of Genetic Epidemiology, SNP Genetics, Inc., Rm 1407, Complex B, WooLim Lion's Valley, Seoul 153-801, Korea.
  • 3Department of Internal Medicine and Liver Research Institute, Seoul National University, Seoul 110-744, Korea.


Cytochrome P450 2E1 (CYP2E1) is a member of the cytochrome P450 superfamily, and it is a key enzyme responsible for the metabolic activation of many smallmolecular-weight compounds such as alcohol, which is classified as a human carcinogen. In this study, we identified 19 single nucleotide polymorphisms (SNPs) in CYP2E1 in Korean population. In these SNPs, we examined possible genetic association of CYP2E1 polymorphisms with HBV clearance and the risk of hepatocellular carcinoma (HCC). Five common polymorphic sites were selected, CYP2E1 polymorphisms at rs381-3867, rs3813870, rs2070673, rs2515641 and rs2480257 , considering their allele frequencies, haplotype-tagging status and LDs for genotyping in larger-scale subjects (n=1,092). Statistical analysis demonstrated that CYP2E1 polymorphisms and haplotypes show no significant association with HBV clearance, HCC occurrence and onset age of HCC (p>0.05). Previous studies, however, have shown contradictory findings on associations of CYP2E1 polymorphisms with CYP2E1 activities and HCC risk. Comparing the contrasting results of previous researches suggest that CYP2E1 polymorphism is associated with CYP2E1 activity induced by ethanol, but is not directly associated with HCC risk. CYP2E1 variation/haploype information identified in this study will provide valuable information for future studies on CYP2E1.


cytochrome P450 2E1 (CYP2E1); hepatocellular carcinoma (HCC); hepatitis B virus (HBV); chronic hepatitis (CH); liver cirrhosis (LC); polymorphism
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