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 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rs72552343TCC/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。
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,rs 1012334,rs 17875752,rs2843710,rs 1041868 genotypes were detected by Mass ARRAY 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.
作者
梁志航
欧敏
张娟娟
刘淑燕
汪文斐
张培泽
傅向东
张国良
张志珍
LIANG Zhihang;OU Min;ZHANG Juanjuan;LIU Shuyan;WANG Wenfei;ZHANG Peize;FU Xiangdong;ZHANG Guoliang;ZHANG Zhizhen(Department of Biochemistry and Molecular and Biology,Guangdong Medical University,Dongguan,Guangdong 523808,China;The National Tuberculosis Clinical Medical Research Center,The Third People's Hospital of Shenzhen,Shenzhen,Guangdong 518112,China;School of Basic Medical Sciences,Shenzhen University,Shenzhen,Guangdong 518060,China)
出处
《中国热带医学》
CAS
2020年第11期1088-1091,1119,共5页
China Tropical Medicine
作者简介
梁志航(1994-),男,硕士在读,研究方向:结核分枝杆菌感染与免疫的研究;通信作者:张志珍,E-mail:zzzhang@gdmu.edu.cn。
