Abstract: Objective To study the correlations between genetic polymorphisms of cytochrome P450 CYP1A1 and CYP2D6 and leukemia predisposition by investigating the frequency distributions of genetic polymorphisms of CYP1A1 and CYP2D6 in leukemia patients and healthy controls in the population of Hunan Province in China. Methods The frequencies of polymorphic genotypes of CYP1A1 and CYP2D6 were detected by PCR and PCR-RFLP technologies. Results Frequencies of the wild (W/W), the heterozygous mutation (W/M) and the homozygous mutation (M/M) types of both CYP1A1 and CYP2D6 genes showed no significant differences between the patients with acute lymphoblastic leukemia (ALL), acute non-lymphoblastic leukemia (ANLL) or chronic myelogenous leukemia (CML) and the healthy controls. The individuals with W/M or M/M genotypes of CYP1A1 or CYP2D6 also showed no increased leukemia risk over their wild type counterparts. However, the frequency of CYP1A1W/M genotype combined with CYP2D6W/M genotype of ANLL group was higher than that of the control group. Conclusions The polymorphic variation of CYP1A1 alone or of CYP2D6 alone does not affect the susceptibility to leukemia. However, heterozygous mutation of CYP1A1 gene combined with that of CYP2D6 gene increases the risk of ANLL.

Key words: CYP1A1, CYP2D6, genetic polymorphism, leukemia, genetic susceptibility