[The C46359T polymorphism of DNMT3B promoter gene and pathogenesis of acute leukemia].

OBJECTIVE: To explore the relationship between the polymorphism of C46359T in DNMT3B promoter and the pathogenesis of acute leukemia (AL). METHODS: PCR-RFLP and DNA sequencing were used to analyze the genotypic polymorphism C46359T of promoter in genomic DNA of bone marrow cells/blood lymphocytes from 160 patients with AL and 240 normal controls. RESULTS: In people of the Hans in China, genotypic frequencies of 2.5% (CT), 97.5% (TT) and 0 (CC) were statistically significant (P < 0.001) comparing with the genotype frequencies of 41.8% (CT), 23.2% (TT) and 35.0% (CC) in Caucasian in USA. The genotypic frequency of CT heterozygote in 160 AL patients was 10.6%, significantly higher than that in the control subjects (2.5%, P < 0.001), indicating that the CT heterozygote might be a more frequent phenomenon in AL. Compared with TT homozygote, CT heterozygote had a 4.669-fold increased risk of acute leukemia (OR = 4.669; 95% confidence interval 1.700-14.747). It was suggested that CT heterozygote was relative to the pathogenesis of AL. CONCLUSIONS: Different distribution of genotypes in different races, the CT heterozygote was relative to the pathogenesis of AL.