The Association Analysis Of SMADs Binding Site Polymorphisms Rs9911630A?G And Gastric Cancer Risk

Background: Gastric cancer(GC)is the fourth most common cancer and second leading cause of cancer-related death worldwide.In spite of major improvements in diagnosis and treatment,the 5-year survival rate of GC is still less than 30%.Evidences suggested that Single nucleotide polymorphisms(SNPs)in transcription factor binding sites can change around Cp G island methylation status,affecting gene transcription,which would influence the tumor occurrence.Small mother against decapentaplegic(SMAD)proteins are known as a family of transcription factors widely expressed in many human tissues.Previous studies found that the transcription factor SMADs are closely related to gastric cancer.Purpose: We performed this study to investigate whether SNPs in SMADs binding sites affect the susceptibility and prognosis of gastric cancer(GC).Methods: Using bioinformatics tools,we searched SNPs located in SMADs binding sites.Then we tested the methylation status of Cp G sites of each SNP by me QTL analysis.Finally,rs9911630 was enrolled in the further study.We genotyped this SNPs in a case-control study of 1275 GC patients and 1426 cancer-free subject using Taq Man allelic discrimination method.Results: We found that rs9911630 A>G polymorphism was related to an increased risk of gastric cancer(adjusted OR for additive model = 1.157;95%CI = 1.033-1.295;additive model).Conclusions: our results suggested that rs9911630 polymorphism in SMADs target site might influence susceptibility of gastric cancer in the Chinese populations.It provided theoretical basis for early prevention,diagnosis of GC on a molecular level.