Integrated in silico assessment of the regulatory and structural consequences of pulmonary tuberculosis-associated SP110 polymorphisms
Scientific Reports, Published online: 06 August 2026; doi:10.1038/s41598-026-65881-y Integrated in silico assessment of the regulatory and structural consequences of pulmonary tuberculosis-associated SP110 polymorphisms
The study investigates the genetic factors linking specific SP110 single nucleotide polymorphisms (SNPs) to susceptibility to pulmonary tuberculosis (PTB) through computational analysis. Ten SP110 SNPs were chosen from global genomic databases, based on prior association with PTB and their frequent occurrence in African populations.
The analysis employed a multi-tool framework utilizing deep-learning splice predictors, including SpliceAI, Pangolin, and AlphaGenome, to evaluate the potential regulatory and functional consequences of these SNPs on transcription factor binding, RNA splicing, RNA secondary structure, and protein effects. The research found that SP110 variants are unlikely to significantly impact splicing or protein stability, but may contribute to functional diversity by modulating transcription factor binding and altering RNA structure.
The findings suggest that these genetic variations may play a role in the complex interplay between genetic factors and PTB susceptibility.
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