胃癌发生与XPC基因单倍型的关系

目的 探讨XPC基因多态性位点rs2228000和rs2228001位点与胃癌发生风险的关系.方法 采用聚合酶链反应.限制性片段长度多态性(PCR-RFLP)方法,对203例胃癌患者和210例对照者进行XPC基因rs2228000位点和rs2228001位点多态性检测;并采用PHASE 2.0软件构建这两个多态性位点的单倍型,以非条件Logistic回归校正混杂因素,进行多态性与胃癌风险相关性的统计学分析.结果 XPC基因多态性位点rs2228000与rs2228001在胃癌与正常对照组之间差异无统计学意义(P>0.05).该两个SNPs构建的单倍型AT与CT与胃癌的易感关联的差异有统计学意义(P<0.01),OR值分别为2.62,10.51;分层分析显示AT与cT单倍型在性别、吸烟、饮酒、年龄分层中的差异均有统计学意义(P<0.05),且在AT单倍型中随年龄的增大,OR值逐渐增高,在<50岁、50～60岁、>60岁3个年龄层中OR值分别为1.91(95%CI:1.08～3.38)、3.49(95%CI:1.50～8.15)、5.43(95%CI:1.58～18.67).结论 XPC基因rs2228000与rs2228001多态性位点的单倍型与胃癌的发生明显相关.

The association of gastric cancer with XPC gene haplotype

Objective To explore the relationship between the two XPC Single nucleotide polymorphism (SNPs) , rs2228000 and rs2228001, and the susceptibility of gastric cancer. Methods The two XPC SNPs were assayed by polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) in 203 cases of gastric cancer (GC) and 210 healthy controls. Software PHASE 2. 0 was employed to construct the haplotypes of each individual and unconditional multivariate logistic regression was used to determine association of genotypes or haplotypes and GC adjusting potential confounding factors. Results There were no significant differences in the genotypes of the two SNPs of XPC gene, rs2228000 and 2228001 between GC patients and healthy controls (P>0.05). However, there was significant difference in the frequencies of AT or CT haplotype constituted by he two SNPs between the two groups (P<0. 01 ) and OR values were respectively 2. 62 and 10. 51. In stratified analysis, haplotype analysis revealed that haplotype AT or CT was associated with GC risk in gender, smoking, drinking and age status (P<0. 05). Meanwhile the risk of GC was increased with age in AT haplotype with OR values being 1. 91 (95% CI: 1.08-3.38), 3.49 (95% CI: 1.50-8.15), 5.43 (95% CI: 1.58-18.67) respectively in less than 50 years old status, 50-60 years old status and more than 60 years old status. Conclusion The haplotype of XPC gene, rs2228000 and 2228001 may contribute to the genetic susceptibility of GC.