Significant Association of DNASE1 Variable Number Tandem Repeats and Single Nucleotide Polymorphisms With Gastric Cancer

Introduction: Defects in the apoptotic process are among the most important events involved in carcinogenesis, and defects in DNASE1, as one of the apoptotic machinery components, plays a role in various types of cancer. Previous studies have indicated significant differences in the DNASE1 polymorphisms in different populations. We hypothesized an association of two polymorphic sites in the exon 8 and the intron 4 of the DNASE1 gene with the risk of gastric cancer. Materials and Methods: The study was carried out on 120 gastric cancer patients and 120 age and sex adjusted controls using PCR and RFLP-PCR. Results: The genotype GG (rs1053874) in exon 8 of DNASE1 (odds ratio [95% confidence interval]) 4.65 [2.10–10.29], p < 0.001) and genotype 2/3 of variable number tandem repeat (VNTR) in the intron 4 (3.75 [1.56–9.01], p = 0.003) are both linked to gastric cancer. Conclusion: We propose that both polymorphic sites have a part to play in gastric cancer, and so may be useful diagnosis markers.