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TAP1 和 TAP2 基因变异与中国人群肺结核易感性的关联。

Associations of genetic variants at TAP1 and TAP2 with pulmonary tuberculosis risk among the Chinese population.

机构信息

Zhejiang Provincial Center for Disease Control and Prevention, Binsheng Road, Binjiang District, Hangzhou City, Zhejiang Province310051, China.

出版信息

Epidemiol Infect. 2021 Mar 19;149:e79. doi: 10.1017/S0950268821000613.

DOI:10.1017/S0950268821000613
PMID:33736739
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8080186/
Abstract

Tuberculosis (TB) is a common infectious disease, and the present study aims to explore the associations of single nucleotide polymorphisms (SNPs) at rs1135216 and rs1057141 of transporter-associated antigen processing (TAP1) and rs2228396 of TAP2 with pulmonary tuberculosis (PTB) risk. A case-control study including 168 smear-positive PTB cases and 251 controls was conducted. Genotyping of the SNPs at rs1135216, rs1057141 and rs2228396 was performed, and their associations with PTB risk were analysed with SPSS software version 19.0. After conducting stratification for age, a significant association was detected for rs1057141 with increased PTB risk (OR = 0.17, 95% CI 0.04-0.79) among those aged ≥60 years. For those aged <60 years, a marginally significant association was detected between rs1135216 TC/CC and PTB risk (OR = 1.97, 95% CI 0.93-4.19). Haplotype analysis revealed that the haplotype AT at rs1135216 and rs2228396, as well as AAT at rs1057141, rs1135216 and rs2228396, was associated with increased PTB risk, and the ORs were 2.83 (95% CI 1.30-6.14) and 2.89 (95% CI 1.34-6.27), respectively. Rs1057141 is a genetic predictor of reduced PTB risk for those aged ≥60 years, while rs1135216 might be a potential genetic predictor for those aged <60 years. Haplotype AT at rs1135216 and rs2228396, as well as AAT at rs1057141, rs1135216 and rs2228396, is a genetic marker that may predict PTB risk.

摘要

结核病(TB)是一种常见的传染病,本研究旨在探讨转运体相关抗原加工(TAP1)的单核苷酸多态性(SNP)rs1135216 和 rs1057141 以及 TAP2 的 rs2228396 与肺结核(PTB)风险之间的关联。进行了包括 168 例涂阳肺结核病例和 251 例对照的病例对照研究。使用 SPSS 软件版本 19.0 对 rs1135216、rs1057141 和 rs2228396 的 SNP 进行基因分型,并分析它们与 PTB 风险的关系。在对年龄进行分层后,发现 rs1057141 与年龄≥60 岁的 PTB 风险增加相关(OR=0.17,95%CI 0.04-0.79)。对于年龄<60 岁的患者,rs1135216 TC/CC 与 PTB 风险之间存在边缘显著关联(OR=1.97,95%CI 0.93-4.19)。单体型分析显示,rs1135216 和 rs2228396 的单体型 AT 以及 rs1057141、rs1135216 和 rs2228396 的单体型 AAT 与 PTB 风险增加相关,OR 分别为 2.83(95%CI 1.30-6.14)和 2.89(95%CI 1.34-6.27)。rs1057141 是年龄≥60 岁患者 PTB 风险降低的遗传预测因子,而 rs1135216 可能是年龄<60 岁患者潜在的遗传预测因子。rs1135216 和 rs2228396 的单体型 AT 以及 rs1057141、rs1135216 和 rs2228396 的单体型 AAT 是可能预测 PTB 风险的遗传标记。