Aklilu Lemma Institute of Pathobiology, Addis Ababa University, Addis Ababa, Ethiopia.
Collage of Natural and Computational Science, Wallaga University, Nekemte, Ethiopia.
Front Public Health. 2024 Aug 9;12:1399731. doi: 10.3389/fpubh.2024.1399731. eCollection 2024.
Extrapulmonary tuberculosis (EPTB) refers to a form of Tuberculosis (TB) where the infection occurs outside the lungs. Despite EPTB being a devastating disease of public health concern, it is frequently overlooked as a public health problem. This study aimed to investigate genetic diversity, identify drug-resistance mutations, and trace ongoing transmission chains.
A cross-sectional study was undertaken on individuals with EPTB in western Ethiopia. In this study, whole-genome sequencing (WGS) was employed to analyze (MTB) samples obtained from EPTB patients. Out of the 96 genomes initially sequenced, 89 met the required quality standards for genetic diversity, and drug-resistant mutations analysis. The data were processed using robust bioinformatics tools.
Our analysis reveals that the majority (87.64%) of the isolates can be attributed to Lineage-4 (L4), with L4.6.3 and L4.2.2.2 emerging as the predominant sub-lineages, constituting 34.62% and 26.92%, respectively. The overall clustering rate and recent transmission index (RTI) were 30 and 17.24%, respectively. Notably, 7.87% of the isolates demonstrated resistance to at least one anti-TB drug, although multi-drug resistance (MDR) was observed in only 1.12% of the isolates.
The genetic diversity of MTBC strains in western Ethiopia was found to have low inter-lineage diversity, with L4 predominating and exhibiting high intra-lineage diversity. The notably high clustering rate in the region implies a pressing need for enhanced TB infection control measures to effectively disrupt the transmission chain. It's noteworthy that 68.75% of resistance-conferring mutations went undetected by both GeneXpert MTB/RIF and the line probe assay (LPA) in western Ethiopia. The identification of resistance mutations undetected by both GeneXpert and LPA, along with the detection of mixed infections through WGS, emphasizes the value of adopting WGS as a high-resolution approach for TB diagnosis and molecular epidemiological surveillance.
肺外结核病（EPTB）是指发生在肺部以外的结核病形式。尽管 EPTB 是一种严重的公共卫生关注疾病，但它经常被忽视为一个公共卫生问题。本研究旨在调查遗传多样性，鉴定耐药突变，并追踪正在进行的传播链。
在埃塞俄比亚西部进行了一项 EPTB 患者的横断面研究。在这项研究中，我们采用全基因组测序（WGS）分析了来自 EPTB 患者的结核分枝杆菌（MTB）样本。在最初测序的 96 个基因组中，有 89 个符合遗传多样性和耐药突变分析的质量标准。使用强大的生物信息学工具处理数据。
我们的分析表明，大多数（87.64%）分离株可归因于谱系 4（L4），其中 L4.6.3 和 L4.2.2.2 成为主要的亚谱系，分别占 34.62%和 26.92%。总的聚类率和近期传播指数（RTI）分别为 30%和 17.24%。值得注意的是，7.87%的分离株至少对一种抗结核药物耐药，尽管仅在 1.12%的分离株中观察到耐多药（MDR）。
在埃塞俄比亚西部，MTBC 菌株的遗传多样性表现为低谱系间多样性，以 L4 为主，具有高谱系内多样性。该地区显著的高聚类率表明迫切需要加强结核病感染控制措施，以有效阻断传播链。值得注意的是，在埃塞俄比亚西部，68.75%的耐药突变基因检测试剂盒（GeneXpert MTB/RIF）和线探针分析（LPA）均未检出。在埃塞俄比亚西部，通过 WGS 检测到两种基因检测试剂盒均未检出的耐药突变，以及混合感染的检测，强调了采用 WGS 作为结核病诊断和分子流行病学监测的高分辨率方法的价值。
