The effects of Mycobacterium tuberculosis genotypes on clinical phenotypes revealed by whole-genome sequencing technology in China
Year: 2026
Type: article
Study design: Observational Study
Abstract: Background: (MTB) lineages and tuberculosis (TB) clinical phenotypes remain inconsistent across studies, primarily because conventional genotyping techniques lack the resolution to distinguish fine-scale sublineages. This study aimed to rigorously verify the clinical characteristics and prognostic significance of predominant Beijing-lineage strains circulating in China using high-resolution genomic evidence. Methods: In total, 173 patients with TB were enrolled in the study, and whole-genome sequencing (WGS) was performed on 213 clinical MTB isolates; mixed-strain infections were excluded from subsequent analyses. Phylogenetic sublineage classification was performed based on single-nucleotide polymorphism (SNP) profiling. Multivariate logistic regression was used to independently assess the associations between MTB genotypes, clinical manifestations, and treatment outcomes, after adjusting for demographic and clinical confounding factors. Results: Among the 172 valid isolates, 80.8% were classified as East Asian Beijing lineage (lineage 2), 18.0% as Euro-American lineage (lineage 4), and 1.2% as Indo-Oceanic lineage (lineage 1). Compared with the non-Beijing strains, the Beijing strains were independently associated with an increased risk of pulmonary cavitation [adjusted odds ratio (aOR) =4.76, 95% confidence interval (CI): 2.01-11.26, P=0.006], as well as a decreased risk of disseminated TB (aOR =0.40, 95% CI: 0.17-0.95, P=0.04). No significant association was observed between the Beijing genotype and treatment failure, whereas cavitary disease was an independent predictor of treatment failure. Conclusions: MTB genetic diversity contributes substantially to heterogeneity in TB clinical phenotypes. WGS enables precise sublineage identification and facilitates robust genotype-phenotype analysis. These findings support the implementation of genomic surveillance to optimize individualized clinical management and inform targeted TB prevention strategies in endemic regions.
Source: Journal of Thoracic Disease
Language: English
Subfield: Infectious Diseases
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7224111212