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目的:探讨免疫关卡点分子程序性死亡配体1(programmed death ligand 1,PD-L1)基因3’端非翻译区(3’untranslated region,3’UTR)单核苷酸多态性(single nucleotide polymorphism,SNP)与膀胱尿路上皮癌(bladder urothelial carcinoma,BUC)发病风险及临床病理特征之间的关系。方法:采用病例-对照研究方法,PCR-LDR技术分别检测2013年6月至2015年12月在青岛大学附属医院泌尿外科住院手术治疗的213例BUC患者和251例同期健康体检者PD-L1基因3’UTR的rs4143815位点和rs2297136位点基因型分布频率,采用卡方检验和非条件多因素Logistic回归分析不同基因型与BUC发病风险以及临床病理特征之间的关系。结果:BUC组PD-L1基因3’UTR的rs4143815位点基因型分布频率与对照组相比存在明显差异,GG基因型个体发生BUC的风险是CC基因型的2.83倍(95%CI:1.82~4.64,P<0.01),携带G突变基因(CG/GG基因型)个体BUC发病风险是CC型基因个体的1.53倍(95%CI:1.01~2.24,P<0.01),同时BUC组rs4143815位点携带G突变基因频率与BUC病理分级和临床分期具有相关性(P<0.05或P<0.01);而在rs2297136位点,BUC组和对照组基因型分布频率无显著差异,CC、CT及TT基因型个体之间发生BUC的风险亦无显著差异(均P>0.05)。结论:PD-L1基因3’UTR的rs4143815位点SNP与BUC的发病风险和恶性进展可能具有相关性。
Objective: To investigate the single nucleotide polymorphisms (SNPs) of 3’untranslated region (3’UTR) of programmed death ligand 1 (PD-L1) polymorphism, SNP and the risk of developing bladder urothelial carcinoma (BUC) and its clinicopathological features. Methods: The case-control study and PCR-LDR were used to detect 213 cases of BUC and 251 cases of PD-L1 gene in hospitalized patients undergoing urology surgery in Affiliated Hospital of Qingdao University from June 2013 to December 2015 respectively 3’UTR rs4143815 and rs2297136 loci genotype frequencies, using chi-square test and non-conditional multivariate Logistic regression analysis of different genotypes and the incidence of BUC and the relationship between clinicopathological features. Results: The frequency of genotype distribution of rs4143815 in 3’UTR of PD-L1 gene in BUC group was significantly different from that in control group. The risk of BUC in genotype GG genotype was 2.83 times of that in CC genotype (95% CI: 1.82 ~ (95% CI: 1.01-2.24, P <0.01). In the BUC group, the rs4143815 locus was significantly higher in the BUC group than in the CC genotype group There was a significant correlation between the frequency of G mutation and the pathological grade and clinical stage of BUC (P <0.05 or P <0.01), but there was no significant difference in genotype distribution between BUC and control at rs2297136 There was no significant difference in the occurrence of BUC between individuals (all P> 0.05). Conclusion: SNP at rs4143815 in 3’UTR of PD-L1 gene may be correlated with the risk of malignancy and progression of BUC.