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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)技术检测基因rs2239751 和rs622502 的基因型分布，探讨基因多态性与中国汉族人群肺结核易感性的关联性。结果：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。

英文摘要:

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 Han 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 were detected by PCR-RFLP. The relevance between gene polymorphism and tuberculosis was explored.Results:Allele distributions of rs2239751 and rs622502 of 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 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 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 the polymorphism of rs622502 between case and control were not significant (P>0.05) in the rs622502 of gene polymorphism and tuberculosis correlation study.Conclusion:rs2239751 polymorphismmay be a risk factor for tuberculosis in Han population, C allele was the risk allele. The association of gene polymorphismand tuberculosis of rs2239751 existed only in females and <45 year old people. The rs622502 polymorphismmay not be associated with tuberculosis.

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