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基因多态性增加结核病易感性。

Gene Polymorphisms Increase the Susceptibility to Tuberculosis.

作者信息

Lu Tianchang, Wang Minyi, Liu Nannan, Zhang Shuqiong, Shi Lei, Bao Ling, Luo Feng, Shi Li, Liu Shuyuan, Yao Yufeng

机构信息

Department of Immunogenetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, 650118, People's Republic of China.

School of Life Science, Yunnan University, Kunming, 650500, People's Republic of China.

出版信息

Pharmgenomics Pers Med. 2023 Apr 13;16:325-336. doi: 10.2147/PGPM.S404339. eCollection 2023.

Abstract

PURPOSE

Tuberculosis (TB) is known to result from a complex interaction between the host immune response and infection. The transporter associated with antigen processing (TAP) plays an important role in the processing and presentation pathways for the () antigen. To investigate the possible association of the and genes with TB.

PATIENTS AND METHODS

A total of 449 TB patients and 435 control subjects were included in this study, and single nucleotide polymorphisms (SNPs) in the gene, as well as and alleles, were genotyped.

RESULTS

gene association analysis of TB diseases showed that rs41551515-T in the gene was significantly associated with susceptibility to TB (=7.96E-04, OR=4.124, 95% CI: 1.683-10.102), especially pulmonary TB (PTB, =6.84E-04, OR=4.350, 95% CI: 1.727-10.945), and the combination of rs1057141-T-rs1135216-C in the gene significantly increased the risk of TB susceptibility (=5.51E-05, OR=10.899, 95% CI: 2.555-46.493). Five novel alleles were detected in Yunnan Han people, and the allele frequency of (rs41555220-rs41549617-rs1057141-rs1135216-rs1057149-rs41551515: C-A-T-C-C-T) was notably increased in all TB patients, including in the PTB and EPTB subgroups, and was significantly associated with the risk of susceptibility to TB. However, no association between the gene and TB was found in this study.

CONCLUSION

Host genetic variants of rs41551515-T and the combination rs1057141-T-rs1135216-C, as well as may play a critical role in susceptibility to TB disease.

摘要

目的

已知结核病(TB)是宿主免疫反应与感染之间复杂相互作用的结果。与抗原加工相关的转运体(TAP)在()抗原的加工和呈递途径中起重要作用。旨在研究()和()基因与结核病之间可能存在的关联。

患者与方法

本研究共纳入449例结核病患者和435例对照受试者,对()基因中的单核苷酸多态性(SNP)以及()和()等位基因进行基因分型。

结果

结核病的基因关联分析显示,()基因中的rs41551515 - T与结核病易感性显著相关(=7.96E - 04,OR = 4.124,95%CI:1.683 - 10.102),尤其是肺结核(PTB,=6.84E - 04,OR = 4.350,95%CI:1.727 - 10.945),并且()基因中rs1057141 - T - rs1135216 - C的组合显著增加了结核病易感性风险(=5.51E - 05,OR = 10.899,95%CI:2.555 - 46.493)。在云南汉族人群中检测到5个新的()等位基因,并且()(rs41555220 - rs41549617 - rs1057141 - rs1135216 - rs1057149 - rs41551515:C - A - T - C - C - T)等位基因频率在所有结核病患者中显著增加,包括PTB和EPTB亚组,并且与结核病易感性风险显著相关。然而,本研究未发现()基因与结核病之间存在关联。

结论

rs41551515 - T的宿主基因变异以及rs1057141 - T - rs1135216 - C的组合,以及()可能在结核病易感性中起关键作用。

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