BACKGROUND:The XRCC6 and XRCC5 genes are part of the nonhomologous end-joining (NHEJ) pathway, which is the main mechanism repairing DNA double-strand breaks (DSBs) in human cells. Genetic variations of XRCC6 and XRCC5 might contribute to esophageal squamous cell carcinoma (ESCC) susceptibility. METHODS:ESCC patients (n = 189) and cancer-free controls (n = 189) were recruited in an ESCC high-risk area of north China. Then the rs2267437 (XRCC6), rs3835 (XRCC5) and rs16855458 (XRCC5) polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. RESULTS:A significant difference in genotype distribution and allele frequency of rs2267437 (XRCC6) was observed between the cases and controls. The CG carriers were at higher risk of ESCC (p = 0.001, odds ratio [OR] = 2.040, 95% confidence interval [95% CI], 1.323-3.147). G allele carriers were also associated with an increased ESCC risk (p = 0.003, OR = 1.868, 95% CI, 1.230-2.836). In the 2 polymorphisms of XRCC5, no significant difference was found between both groups in the distribution of either genotype or allelic frequency. But in the haplotypes established by the single nucleotide polymorphisms (SNPs) of XRCC5, the haplotype AT and CC separately increased by 4.28- and 2.31-fold the risk ratio of ESCC (p = 0.01, OR = 4.28, 95% CI, 1.40-13.05; p = 0.03, OR = 2.31, 95% CI, 1.11-4.80, respectively). In addition, gene-smoking or gene-drinking interactions, and their effect on the risk of ESCC were observed, but no significant gene-environment interaction was demonstrated. CONCLUSIONS:In conclusion, both the CG carriers/G allele carriers of rs2267437 (XRCC6) and the haplotype AT/CC established by the SNPs of XRCC5 are associated with ESCC susceptibility.

译文

背景:XRCC6和XRCC5基因是非同源末端连接(NHEJ)途径的一部分,该途径是修复人类细胞中DNA双链断裂(DSB)的主要机制。 XRCC6和XRCC5的遗传变异可能有助于食管鳞状细胞癌(ESCC)的易感性。
方法:在中国北方的ESCC高危地区招募ESCC患者(189例)和无癌对照(189例)。然后使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析对rs2267437(XRCC6),rs3835(XRCC5)和rs16855458(XRCC5)多态性进行基因分型。
结果:病例与对照组之间的rs2267437(XRCC6)基因型分布和等位基因频率存在显着差异。 CG携带者罹患食管鳞癌的风险较高(p = 0.001,优势比[OR] = 2.040,95%置信区间[95%CI],1.323-3.147)。 G等位基因携带者也与ESCC风险增加相关(p = 0.003,OR = 1.868,95%CI,1.230-2.836)。在XRCC5的2个多态性中,两组在基因型或等位基因频率的分布上均未发现显着差异。但是在由XRCC5的单核苷酸多态性(SNP)建立的单倍型中,单倍型AT和CC分别增加了ESCC风险比的4.28和2.31倍(p = 0.01,OR = 4.28,95%CI,1.40- 13.05; p = 0.03,OR = 2.31,95%CI,1.11-4.80)。此外,观察到基因吸烟或基因饮用相互作用,以及它们对ESCC风险的影响,但未显示出显着的基因-环境相互作用。
结论:总之,rs2267437(XRCC6)的CG携带者/ G等位基因携带者和XRCC5的SNPs建立的单倍型AT / CC均与ESCC易感性相关。

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