Aim: Carcinoma of gallbladder (GBC) is a relatively rare but highly fatal disease. The DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B) -579 G>T promoter polymorphism (rs1569686) influences gene function and has been associated with various malignancies. Present population-based case-control study was undertaken to examine the potential association of DNMT3B -579 G>T variation with GBC in North Indian population.
Methods: Genotypes and allelic frequencies of the DNMT3B -579 G>T polymorphism were determined for 212 GBC patients and 219 controls using PCR-RFLP. Odds ratio (OR) and 95% confidence interval (95% CI) were calculated for the association of DNMT3B polymorphism with GBC. Analysis of potential transcription factor binding sites was also identified in the region harboring the polymorphism.
Results: The DNMT3B -579 G>T polymorphism was found to be non-significantly associated with an overall increased risk of GBC (OR = 1.10 and 1.56 for T/G and G/G genotypes, respectively, P (trend) = 0.227). The increased risk was predominant in both male and female cohorts and also non-significantly in GBC patients with gallstone status (OR = 1.44; P = 0.280, OR = 1.06; P = 0.804 and OR = 1.45; P = 0.143, respectively).
Conclusion: DNMT3B -579 G>T polymorphism may alter susceptibility to GBC although it may not play a major role in the pathoetiology of this disease in North Indian population.