Ⅰ型干扰素受体1单核苷酸多态性与结核病易感性的关联性

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 polymorphism,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。

Association between type Ⅰ interferon receptor1single nucleotide polymorphisms,susceptibility to tuberculosis

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).Conclusions 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.