Minor alleles of CTSZ SNPs within the TB severity haplotype block are associated with lower TB severity score and significantly greater CTSZ expression.

Comparison of TB severity, measured using Bandim TBScore, by genotype for ( A ) rs111630627, ( B ) rs8120779, and ( C ) rs76687632 SNPs. Expression of each allele of each SNP was assessed by RNA-Seq at 6 h after mock and Mtb infection in human-derived monocytes. CTSZ expression by monocytes harboring the minor allele for each SNP was significantly increased following both infection conditions for the ( D ) rs111630627, ( E ) rs8120779, and ( F ) rs76687632 SNPs. eQTL effects were assessed with a linear mixed effect model in kimma to account for sex, age, RNA-Seq batch, genotypic principal components 1 and 2, and kinship. The data underlying this figure can be found in S1 Data sheet 4CD_S3DEF. (PDF)