线粒体 DNA 单倍群 C4 可增加中国西南地区活动性结核病的发病风险。

Mitochondrial DNA haplogroup C4 can increase the risk of active tuberculosis disease in Southwest China.

机构信息

Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan.

Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan, The First People's Hospital of Yunnan Province, Kunming, China.

出版信息

Int J Tuberc Lung Dis. 2019 Jun 1;23(6):692-697. doi: 10.5588/ijtld.18.0437.

DOI:10.5588/ijtld.18.0437

PMID:31315701

Abstract

BACKGROUND Tuberculosis (TB) remains a serious health problem worldwide. Host genetic factors are reported to be correlated with tuberculous infection. However, few mitochondrial genetic studies of TB patients have been carried out. OBJECTIVE To investigate the role of mitochondrial DNA (mtDNA) in tuberculous infection. DESIGN We recruited 243 TB patients and 261 normal controls (NCs) to compare their mtDNA haplogroups and copy numbers. RESULTS The frequency of mtDNA haplogroup C4 was significantly higher in TB patients (7%) than in NCs (2.8%, = 0.042). However, this difference disappeared when TB patients were separated into male and female groups and compared with sex-matched NCs. When TB patients were divided into five subgroups for further analyses, the mtDNA haplogroup C4 showed different frequencies among the five subgroups. The frequency of the haplogroup C4 was much lower in the pulmonary TB (pTB) and pleural TB (plTB) group (1.4%) than in the non-pTB and plTB group (9.3%, = 0.027). mtDNA copy numbers were significantly higher in TB patients than in NCs (99.09 ± 54.54 vs. 73.90 ± 43.92; < 0.0001); results in male/female/total TB patients and matched NCs were similar. CONCLUSION mtDNA haplogroups and copy numbers were found to have an important role in active TB disease. .

摘要

背景结核病（TB）仍然是全球严重的健康问题。据报道，宿主遗传因素与结核感染有关。然而，对结核患者的线粒体遗传研究较少。目的探讨线粒体 DNA（mtDNA）在结核感染中的作用。设计我们招募了 243 例结核病患者和 261 例正常对照（NC），比较其 mtDNA 单倍群和拷贝数。结果结核病患者 mtDNA 单倍群 C4 的频率（7%）明显高于 NCs（2.8%， = 0.042）。然而，当将结核病患者分为男性和女性组并与性别匹配的 NCs 进行比较时，这种差异消失了。当将结核病患者进一步分为五个亚组进行分析时，五个亚组中 mtDNA 单倍群 C4 的频率不同。在肺结核（pTB）和胸膜结核（plTB）组中，单倍群 C4 的频率（1.4%）明显低于非 pTB 和 plTB 组（9.3%， = 0.027）。结核病患者的 mtDNA 拷贝数明显高于 NCs（99.09 ± 54.54 比 73.90 ± 43.92； < 0.0001）；男性/女性/总结核病患者和匹配的 NCs 的结果相似。结论 mtDNA 单倍群和拷贝数在活动性结核病中具有重要作用。。