AI Article Synopsis
- Tuberculosis caused by Mycobacterium tuberculosis (Mtb) remains a major global health concern, and this study introduces a new method to identify large genetic insertions and deletions (indels) that have been overlooked.
- The analysis of 1,960 Mtb clinical isolates shows that harmful genetic variants are rarely found in essential survival genes, while Mtb genomes contain many partially harmful mutations.
- The research also links specific genetic variations, including indels in various genes, to patient outcomes and antibiotic resistance, offering insights that could improve tuberculosis treatment and prediction of risks.
Article Abstract
Tuberculosis, a disease caused by Mycobacterium tuberculosis (Mtb), is a significant health problem worldwide. Here, we developed a method to detect large insertions and deletions (indels), which have been generally understudied. Leveraging this framework, we performed a comprehensive analysis of single nucleotide variants and small and large indels across 1,960 Mtb clinical isolates. Comparing the distribution of variants demonstrated that gene disruptive variants are underrepresented in genes essential for bacterial survival. An evolutionary analysis revealed that Mtb genomes are enriched in partially deleterious mutations. Genome-wide association studies identified small and large deletions in eccB2 significantly associated with patient prognosis. Additionally, we unveil significant associations with antibiotic resistance in 23 non-canonical genes. Among these, large indels are primarily found in genetic regions of Rv1216c, Rv1217c, fadD11, and ctpD. This study provides a comprehensive catalog of genetic variations and highlights their potential impact for the future treatment and risk prediction of tuberculosis.
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| http://dx.doi.org/10.1016/j.chom.2024.10.004 | DOI Listing |
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