CISH基因多态性与结核病易感性的相关性研究  

Association of CISH Polymorphism with the Susceptibility to Tuberculosis

作　　者：郑伟[1] 徐向荣[1] 刘佳[1] 陈希婧[1] 程晓东[1] 

机构地区：[1]浙江大学医学院附属妇产科医院,浙江杭州310000

出　　处：《现代生物医学进展》2015年第33期6420-6424,共5页Progress in Modern Biomedicine

摘　　要：目的:寻找肺结核的易感位点,探索宿主遗传因素差异对肺结核发病的影响,为肺结核的预防和药物研发提供理论依据。方法:对1218名汉族居民进行病例对照研究,其中病例组600例,对照组618例,进行流行病学调查和生化指标检查。运用限制性片段长度多态性聚合酶链反应(PCR-RFLP)技术检测CISH基因rs2239751和rs622502的基因型分布,探讨CISH基因多态性与中国汉族人群肺结核易感性的关联性。结果:CISH基因的rs2239751和rs622502等位基因分布均符合Hardy-Weinberg(H-W)遗传平衡定律(P>0.05)。rs2239751位点基因型和等位基因分布在两组间差异有统计学意义,P值分别为0.013和0.01,并且携带C等位基因个体患肺结核的风险是携带A等位基因的个体1.16倍(95%CI=1.03-1.29,P=0.01)。rs2239751基因分型结果在女性病例组和对照组中差异有统计学意义,P值为0.007,OR(95%CI)为1.51(1.12-2.03)。rs2239751基因分型结果在<45岁人群病例组和对照组中差异有统计学意义,P值为0.010,OR(95%CI)为1.32(1.07-1.64)。rs622502位点基因型和等位基因分布在两组间差异均无统计学意义(P>0.05)。结论:在汉族人群中,rs2239751位点多态性可能是肺结核的危险因素之一,C等位基因为风险等位基因。rs2239751基因多态性与肺结核的关联性仅限于于女性和<45岁人群。rs622502位点多态性可能与肺结核无关。Objective： To identify the susceptibility loci of tuberculosis, explore the impact of differences of host genetic factors on tuberculosis, and provide the evidence for prevention and drug development of tuberculosis in Hart population. Methods：This case-control study was based on a total of 1218 unrelated participants of Han population （600 cases and 618 controls）. Epidemiological investigations and biochemical examination had been obtained. The rs2239751 and rs622502 polymorphism of CISH were detected by PCR-RFLP. The relevance between CISHgene polymorphism and tuberculosis was explored. Results： Allele distributions of rs2239751 and rs622502 of CISH both followed Hardy-Weinberg equilibrium （HWE） （P〉0.05）. The differences of allele frequencies and genotype distributions in the polymorphism of rs2239751 between case and control were significant, the P value were 0.013 and 0.01 respectively in the rs2239751 of CISH gene polymorphism and tuberculosis correlation study. In addition, the C allele of rs2239751 polymorphism conferred a 1.16 times increased risk of TB as compared with the A allele （95%CI=1.03-1.29, P=0.01）. The difference of female patients genotyping results of rs2239751 between control and case was statistically significant, the P value was 0.007, OR （95% CI） was 1.51 （1.12-2.03）. The difference of〈45 year old patients genotyping results ofrs2239751 between control and case was statistically significant, the P value is 0.010, OR （95% CI）was 1.32 （1.07-1.64）. The differences of allele frequencies and genotype distributions in the polymorphism of rs622502 between case and control were not significant （P〉0.05） in the rs622502 of CISH gene polymorphism and tuberculosis correlation study. Conclusion： rs2239751 polymorphism may be a risk factor for tuberculosis in Han population, C allele was the risk allele. The association ofgene polymorphism and tuberculosis ofrs2239751 existed only in females and 〈45 year old people. The rs622502 polymorphism may not b

关 键 词：肺结核 CISH 基因 多态性 

分 类 号：R52[医药卫生—内科学]