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Common genetic determinants of dynamic human in vivo immune response to Mycobacterium tuberculosis.

Zhang, P.; Turner, C. T.; Chandran, A.; Parks, T.; Rosenheim, J.; Jiang, J.; Bell, L. C.; Rose-Key, R.; Berkeley, M.; Capocci, S.; Lipman, M.; Kunst, H.; Lozewicz, S.; Tomlinson, G. S.; Knight, J. C.; Noursadeghi, M.

2026-07-09 infectious diseases
10.64898/2026.07.06.26357408 medRxiv
Show abstract

We investigated host-genetic TB susceptibility by expression quantitative trait loci (eQTL) analysis of the tuberculin skin test (TST) as a standardised challenge model of human in vivo TB immunology. Paired genotyping with 415 RNA-sequencing profiles from day 2 and day 7 TST biopsies in 267 individuals with latent or active TB identified cis-eQTLs affecting 1,719 response genes. The strongest signal mapped to ERAP2, and colocalisation analysis linked reduced ERAP2 expression to increased TB risk in GWAS data. Heritability was greatest in HLA class II antigen presentation and T-cell activation pathways. HLA-DR haplotypes associated with subsequent expansion of Mtb-reactive T cells, linking host genotype to antigen-specific immunity. Trans-eQTLs also identified a proliferative programme centred on NCAPD3, implicating genetically regulated cell-cycle control as an antigen-independent determinant of T-cell immunity. These findings provide a functional framework for interpreting TB susceptibility loci and identification of candidate biomarkers for TB risk stratification and vaccine development.

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