An Rsa I polymorphism in the CYP2E1 gene does not affect lung cancer risk in a Japanese population.

CYP2E1 catalyzes the metabolic activation of tobacco-specific N-nitrosamines, including 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone. An Rsa I polymorphism, which is located in the 5'-flanking region of the CYP2E1 gene, has been found to affect the transcriptional regulation of the gene, resulting in different expression levels of the mRNA among individuals. In order to investigate an association between the Rsa I polymorphism and lung cancer susceptibility, the genotype distribution among 316 lung cancer patients was compared with that in 503 healthy controls. No statistically significant association was found between the Rsa I polymorphism and an increased risk of lung cancer, even though histological types of lung cancer, cigarette smoking and alcohol consumption were taken into account.