Department of Microbiology, Vallabhbhai Patel Chest Institute, University of Delhi, Delhi 110007, India.
The Global Tuberculosis Program, Baylor College of Medicine, William T Shearer Center for Immunobiology, Texas Children's Hospital, Houston, TX 77004, USA.
Genes (Basel). 2023 Jan 13;14(1):207. doi: 10.3390/genes14010207.
Tuberculosis (TB) manifests itself primarily in the lungs as pulmonary disease (PTB) and sometimes disseminates to other organs to cause extra-pulmonary TB, such as lymph node TB (LNTB). This study aimed to investigate the role of host genetic polymorphism in immunity related genes to find a genetic basis for such differences.
Sixty-three, Single nucleotide polymorphisms (SNPs) in twenty-three, TB-immunity related genes including eleven innate immunity (, , , , , , , , , ) and twelve cytokine (TNFA, , , , , , , , , , ) genes were investigated to find genetic associations in both PTB and LNTB as compared to healthy community controls. The serum cytokine levels were correlated for association with the genotypes.
PTB and LNTB showed differential genetic associations. The genetic variants in the cytokine genes (, , , and and , associated with PTB susceptibility and cytokine levels but not LNTB ( < 0.05). Similarly, genetic variants in , , and showed susceptibility to LNTB and not PTB. Pathway analysis showed abundance of cytokine related variants for PTB and apoptosis related variants for LNTB.
PTB and LNTB outcomes of TB infection have a genetic component and should be considered for any future functional studies or studies on susceptibility to pulmonary and extra-pulmonary TB.
结核病（TB）主要表现为肺部疾病（PTB），有时也会传播到其他器官，导致肺外结核病，如淋巴结结核（LNTB）。本研究旨在探讨宿主遗传多态性在免疫相关基因中的作用，以寻找这种差异的遗传基础。
研究了 23 个与 TB 免疫相关的基因中的 63 个单核苷酸多态性（SNPs），包括 11 个先天免疫（、、、、、、、、）和 12 个细胞因子（TNFA、、、、、、、、、）基因，以发现 PTB 和 LNTB 与健康社区对照相比的遗传关联。还将血清细胞因子水平与基因型进行了相关性关联分析。
PTB 和 LNTB 显示出不同的遗传关联。细胞因子基因中的遗传变异（、、、和以及、与 PTB 易感性和细胞因子水平相关，但与 LNTB 无关（<0.05）。同样，细胞因子基因中的遗传变异和与 LNTB 易感性相关，而与 PTB 无关。通路分析显示，PTB 存在大量细胞因子相关变异，LNTB 存在大量凋亡相关变异。
TB 感染的 PTB 和 LNTB 结果具有遗传成分，应考虑用于任何未来的功能研究或对肺内和肺外 TB 的易感性研究。
