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      Association between type Ⅰ interferon receptor 1 single nucleotide polymorphisms and susceptibility to tuberculosis

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          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。

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          Author and article information

          China Tropical Medicine
          China Tropical Medicine (China )
          01 November 2020
          01 November 2020
          : 20
          : 11
          : 1088-1091
          1Department of Biochemistry and Molecular and Biology,Guangdong Medical University, Dongguan, Guangdong 523808, China
          2The National Tuberculosis Clinical Medical Research Center, The Third People’s Hospital of Shenzhen, Shenzhen, Guangdong 518112, China
          3School of Basic Medical Sciences,Shenzhen University, Shenzhen, Guangdong 518060, China
          Author notes
          *Corresponding author: ZHANG Zhizhen, E-mail: zzzhang@
          © 2020 Editorial Department of China Tropical Medicine

          This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 Unported License (CC BY-NC 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See

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