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目的:探讨mi R-196a2 T>C基因多态与江苏人群宫颈癌遗传易感性的关系。方法 :选择经组织学确诊的509例新发宫颈癌患者作为病例组,与病例组人群不存在生物学相关的562例正常人群作为对照组,利用Taqman实时荧光定量PCR技术检测基因型;选择宫颈鳞状细胞癌标本20例,实时荧光定量PCR(RT-q PCR)检测各基因型mi R-196a的表达量;Logistic回归模型计算基因型与人群罹患宫颈癌的风险比(odds ratio,OR)及其95%的可信区间(95%CI)。结果:携带mi R-196a2突变纯合子CC个体罹患宫颈癌的风险明显高于TT基因型个体(OR=1.45,95%CI:1.04~2.09),携带TC/CC基因型个体增加约33%的宫颈癌发病风险(OR=1.33,95%CI:1.06~1.81);对宫颈鳞状细胞癌(cervical squamous cell carcinoma,CSCC)分析,与TT基因型比较,含突变纯合子CC个体罹患CSCC的风险明显升高(OR=1.49,95%CI:1.05~2.11),携带TC/CC基因型个体增加约31%的CSCC发病风险(OR=1.31,95%CI:1.00~1.73);RT-q PCR显示,在宫颈鳞癌组织中CC及CT/CC基因型与TT基因型相比,成熟mi R-196a的表达水平明显升高。结论 :Mi R-196a2 T>C多态变异与中国江苏人群宫颈癌遗传易感性关联密切。
Objective: To investigate the relationship between polymorphism of mi R-196a2 T> C gene and genetic susceptibility to cervical cancer in Jiangsu population. Methods: A total of 509 cases of newly diagnosed cervical cancer confirmed by histology were selected as the case group, and 562 normal subjects without biologic correlation were selected as the control group. The genotypes were determined by Taqman real-time fluorescence quantitative PCR. The expression of mi R-196a was detected by real-time fluorescence quantitative PCR (RT-qPCR) and the odds ratio (OR) was calculated by logistic regression model between cervical cancer and genotype. And 95% confidence interval (95% CI). Results: The risk of cervical cancer in individuals with mi R-196a2 mutation homozygous CC was significantly higher than that in individuals with TT genotype (OR = 1.45, 95% CI: 1.04-2.09) and individuals with TC / CC genotype increased by 33% (OR = 1.33, 95% CI: 1.06-1.81). In cervical squamous cell carcinoma (CSCC) analysis, individuals with mutation homozygote CC had a higher risk of CSCC than those with TT genotype (OR = 1.49, 95% CI: 1.05-2.11). The individuals with TC / CC genotype increased the risk of CSCC by about 31% (OR = 1.31, 95% CI: 1.00-1.73) The results showed that the expression of R-196a in mature miRNA was significantly increased in CC and CT / CC genotypes compared with TT genotype in cervical squamous cell carcinoma tissues. Conclusion: The polymorphism of Mi R-196a2 T> C is closely related to the genetic susceptibility of cervical cancer in Jiangsu population of China.