| Objective: To investigate the single nucleotide polymorphisms (SNPs) of JWA and XRCC1 genes from a hospital based case-control study population; to evaluate the associations between the gene SNPs and the risk of digestive system cancers; furthermore, the gene-gene and gene-environment interactions were analyzed.Methods: A case-control study in Jiangsu people include 202 digestive system cancers and 215 healthy people, using PCR-SSCP to selected candidate SNPs of JWA and XRCC1 genes, the identified SNPs were confirmed by direct DNA sequencing and followed by PCR-RFLP; further explore the function of the SNP in promoter region of JWA gene; the recombinant plasmids of which contain the SNPs were constructed into pCAT3 basic reporter gene vector and were transfected transiently into NIH-3T3 cells for CAT-ELISA assay; estimate the interaction of XRCC1 and JWA in development of the digestive system cancers. Results:1. A novel SNP -76 G/C in the 5'-flaking region of the JWA gene was found and confirmed. The frequencies of the GG and GC genotype were 80.7 %, 19.3% in digestive system cancers and 89.3%, 10.7% in control group. The difference was statistically significant (P=0.014);2. Another SNP of the JWA 723T/G was also found and confirmed in this study. The frequencies of the TT, TG and GG genotype were not statistically significant between digestive system cancers (41.1%, 48.0%, 10.9%) and control group (34.0%, 50.2%和 15.8%) (p=0.183);3. In stratification analysis of-76G/C we found that there were statistically significant in male and non smoking status (aOR and 95%... |
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