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目的探讨X射线交叉互补修复基因1(X-ray repair cross complementing group one,XRCC1)位点多态性与食管癌易感性的关系。方法采用病例对照研究的方法,收集食管癌病例143例,对照165例进行食管癌相关因素问卷调查并采用聚合酶链式反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)进行基因分型,分析XRCC1基因rs915927多态与食管癌的关系。结果 XRCC1基因rs915927位点基因型A/A、A/G+G/G,在病例组的比例分别为92.31%、7.69%,在对照组的比例为83.64%、16.36%,两组间差异有统计学意义(2=5.33,P=0.021)。等位基因A、G在病例组和对照组的分布分别为95.45%、4.55%和91.21%、8.79%,差异有统计学意义(2=4.34,P=0.037)。携带有XRCC1基因rs915927突变杂合子(AG)和突变纯合子(GG)的个体发生食管癌的危险性比携带野生纯合子(AA)个体低(OR=0.43,95%CI:0.21~0.90)。结论 XRCC1基因rs915927多态可能与长治地区食管癌的发生有关。
Objective To investigate the relationship between the X-ray repair cross complementing group 1 (XRCC1) locus polymorphism and the susceptibility to esophageal cancer. Methods A case-control study was used to collect 143 cases of esophageal cancer and 165 controls to investigate esophageal cancer-related factors and to use polymerase chain reaction-restriction fragment length polymorphism (PCR). PCR-RFLP) genotyping was performed to analyze the relationship between XRCC1 gene rs915927 polymorphism and esophageal cancer. Results The genotypes A/A and A/G+G/G of rs915927 in the XRCC1 gene were 92.31% and 7.69% in the case group and 83.64% and 16.36% respectively in the control group. There were differences between the two groups. Statistical significance (2=5.33, P=0.021). The distributions of alleles A and G in case group and control group were 95.45%, 4.55%, 91.21%, and 8.79%, respectively, and the difference was statistically significant (2=4.34, P=0.037). Individuals carrying the rs915927 mutant heterozygote (AG) and mutant homozygote (GG) of the XRCC1 gene were at significantly lower risk of developing esophageal cancer than individuals carrying wild homozygous (AA) (OR=0.43, 95% CI: 0.21 to 0.90). Conclusion The rs915927 polymorphism of XRCC1 gene may be related to the occurrence of esophageal cancer in Changzhi area.