Abstract:

Objective The aim of our study was to investigate whether single-nucleotide polymorphisms at loci rs16999593 and rs2228611 in the gene encoding DNA methyltransferase 1（Dnmt1） are associated with risk of gastric cancer. Methods A total of 310 patients with gastric cancer and 420 healthy controls，all Han Chinese， were genotyped at rs16999593 and rs2228611 using PCR-based DNA sequence analysis and direct DNA sequencing. Results TT，CT and CC genotypes were identified at the rs16999593 locus: respective frequencies among patients were 58.1%， 36.1% and 5.8%， compared to 66.9%， 27.9% and 5.2% among controls. The CT genotype was associated with significantly higher risk than the wild-type TT genotype（OR 1.494，95%CI 1.086 to 2.057， P<0.05）. The CC genotype was associated with marginally，but not significantly，higher risk than TT（OR 1.277，95%CI 0.677 to 2.448，P>0.05）. The frequencies of genotypes at rs2228611 did not differ significantly between patients and controls（P>0.05）. Conclusion Polymorphism at Dnmt1 rs16999593 is associated with elevated risk of gastric cancer among Han Chinese in Qingdao．

Key words: Gastric neoplasm, Dnmt1 gene, Single-nucleotide polymorphisms, Genotype, Susceptibility