Objective To investigate the relationship between single nucleotide polymorphism (SNP) of type I interferon receptor 1 (IFNAR1) and susceptibility to tuberculosis in the Han population in southern China.
Methods A case-control study was used, with 1 533 patients with active tuberculosis (including 1 432 tuberculosis and 101 extrapulmonary tuberculosis) as the case group, and 1 445 healthy people as the control group. Interferon (IFN) gene rs72552343, rs2834191, rs1012334, rs17875752, rs2843710, rs1041868 genotypes were detected by MassARRAY time-of flight mass spectrometry. The differences in the frequency of SNP alleles between the two groups were analyzed, and the differences in the frequency of rs72552343 TCC / Del locus in patients with pulmonary tuberculosis and extrapulgative tuberculosis were further compared.
Results MassARRAY time-of-flight mass spectrometry can effectively detect the genotypes of six SNP loci. Among the 6 SNP loci, it was found that only the rs72552343 TCC/Del locus allele frequency was significantly different between the active tuberculosis group and the control group, and the rs72552343 TCC/Del locus TCC allele frequency was significantly increased ( OR=0.46; 95% CI=0.31 -0.70; P=0.000 2), the frequency of the other five SNP alleles was not significantly different between the two groups. In addition, the frequency of TCC alleles at rs72552343 TCC / Del loci in patients with extrapulmonary tuberculosis was not significantly different from that in patients with tuberculosis ( OR=0.88; 95% CI=0.20-3.74; P=0.86).
Conclusion The IFN gene rs72552343 TCC / Del site SNP is related to susceptibility to tuberculosis. The TCC allele is a susceptibility gene for tuberculosis, but individuals carrying the TCC allele have the same risk of active pulmonary tuberculosis as those with extrapulmonary tuberculosis.
摘要：目的 探究Ⅰ型干扰素受体 1 (typeⅠinterferon receptor 1, IFNAR1) 单核苷酸多态性 (single nucleotide poly⁃ morphism, SNP) 与结核病易感性的关系。 方法 应用病例-对照研究方法, 以深圳市第三人民医院 1 533 例活动性结核 病患者 (包括 1 432 例肺结核、101 例肺外结核) 作为病例组, 1 445 例健康人群作为对照组。运用 MassARRAY 飞行时间 质 谱 技 术 , 通 过 检 测 Ⅰ 型 干 扰 素 (interferon, IFN) 基 因 rs72552343、rs2834191、rs1012334、rs17875752、rs2843710、rs1041868 位点基因型, 分析两组间 SNP 等位基因频率差异, 同时进一步比较肺结核与肺外结核病患者 rs72552343 TCC/Del 位点等位基因频率差异。 结果 用 MassARRAY 飞行时间质谱技术可以有效地检测 6 个 SNP 位点基因型。在 6 个 SNP 位点中, 发现仅 rs72552343 TCC/Del 位点等位基因频率在活动性结核组和对照组中差异有统计学意义 ( P<0.05) , 结核病患者 rs72552343 TCC/Del 位点 TCC 等位基因频率显著增高 ( OR=0.46; 95% CI=0.31~0.70; P=0.0002) , 其他 5 个 SNP 等位基因频率在两组之间差异无统计学意义 ( P>0.05)。另外, 发现肺外结核病患者 rs72552343 TCC/Del 位点 TCC 等位基因的频率与肺结核病患者差异无统计学意 义 ( OR=0.88; 95% CI=0.20~3.74; P=0.86)。 结论 IFN 基因 rs72552343 TCC/Del 位点 SNP 与结核易感性相关, 其 TCC 等位基因为结核易感基因, 但携带 TCC 等位基因的个体患活 动性肺结核与肺外结核的风险一致。