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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 search for the susceptible sites of tuberculosis and to explore the influence of differences in host genetic factors on the incidence of pulmonary tuberculosis, and to provide a theoretical basis for the prevention and drug development of tuberculosis. Methods: A case-control study was conducted on 1218 Han residents, including 600 case patients and 618 control subjects. Epidemiological investigation and biochemical tests were performed. The genotypes of rs2239751 and rs622502 of CISH gene were detected by PCR-RFLP, and the association between CISH gene polymorphism and susceptibility to tuberculosis in Chinese Han population was explored. Results: The alleles of rs2239751 and rs622502 of CISH gene all conformed to the Hardy-Weinberg (H-W) genetic balance (P> 0.05). The rs2239751 locus genotype and allele distribution were significantly different between the two groups with P values of 0.013 and 0.01, respectively, and individuals carrying the C allele were 1.16 times more likely to develop tuberculosis than those carrying the A allele 95% CI = 1.03-1.29, P = 0.01). rs2239751 genotyping results in the female case group and the control group differences were statistically significant, P value was 0.007, OR (95% CI) was 1.51 (1.12-2.03). The genotyping results of rs2239751 in the 45-year-old population were significantly different from those in the control group (p = 0.010, OR = 95% CI = 1.32, 1.07-1.64). rs622502 locus genotype and allele distribution between the two groups showed no significant difference (P> 0.05). Conclusion: In the Han population, rs2239751 polymorphism may be one of the risk factors for tuberculosis. The C allele is a risk allele. The association of rs2239751 polymorphism with tuberculosis was limited to women and <45 years of age. rs622502 polymorphism may not be related to pulmonary tuberculosis.