CISH基因多态性与结核病易感性的相关性研究

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(P0.05)。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(P0.05)。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。

Association of CISH Polymorphismwith the Susceptibility to Tuberculosis

Objective:To identify the susceptibility loci of tuberculosis, explore the impact of differences of host genetic factors ontuberculosis, and provide the evidence for prevention and drug development of tuberculosis in Han population.Methods:Thiscase-control study was based on a total of 1218 unrelated participants of Han population (600 cases and 618 controls). Epidemiologicalinvestigations and biochemical examination had been obtained. The rs2239751 and rs622502 polymorphism of were detected byPCR-RFLP. The relevance between gene polymorphism and tuberculosis was explored.Results:Allele distributions of rs2239751and rs622502 of both followed Hardy-Weinberg equilibrium (HWE) (P>0.05). The differences of allele frequencies and genotypedistributions in the polymorphism of rs2239751 between case and control were significant, the P value were 0.013 and 0.01 respectivelyin the rs2239751 of gene polymorphism and tuberculosis correlation study. In addition, the C allele of rs2239751 polymorphismconferred 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 patientsgenotyping 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 of rs2239751 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 thepolymorphism of rs622502 between case and control were not significant (P>0.05) in the rs622502 of gene polymorphism andtuberculosis correlation study.Conclusion:rs2239751 polymorphismmay be a risk factor for tuberculosis in Han population, C allele wasthe risk allele. The association of gene polymorphismand tuberculosis of rs2239751 existed only in females and <45 year old people. Thers622502 polymorphismmay not be associated with tuberculosis.