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KMID : 0616620040100010069
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Journal of Soonchunhyang Medical College
2004 Volume.10 No. 1 p.69 ~ p.75
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The Gene Polymorphism of CYP2E1 in a Korean Population
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Kwon Jun-Tack
Kim Hyung-Kee
Sohn Dong-Ryul
Yom Yoon-Ki
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Abstract
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Cytochrome P4502E1 (CYP2E1) is inducible by ethyl alcohol and activates procarcinogenic N-nitrosodimethylamine (NDMA), benzene, urethane and other lower molecular weight compound. CYP2E1 is also involved in metabolism of certain drugs, for example, alcohol, acetaminophen, tamoxifen, theophylline, fluorinated anesthetics, and chlorozoxazone. CYP2E1 activity was shown to be polymorphically distributed in humans and has been suggested to play a role in hepatocellular carcinoma and alcoholic related disorders. Although genetic predisposition to alcoholism and alcoholic liver disease has been reported, genetic susceptibility to alcoholic pancreatitis is still a matter of debate. The aims of this study were to investigate the allelic frequency of CYP2E1 Rsa I polymorphism in Koreans. We investigated the frequency distribution of CYP2E1 Rsa I polymorphism in 212 unrelated healthy Koreans and 42 hepatocellular carcinoma patients. Detection of the CYP2E1 alleles was performed by polymerase chain reaction and restriction fragment length analysis. The genomic DNA was isolated from peripheral blood with conventional phenol: chloroform extraction method. The allelic frequencies of c1 and c2 in healthy volunteers were 0.85 and 0.15, respectively. The rare type (c2/c2) of CYP2E1 Rsa I polymorphism was 0.005 in healthy volunteers.
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