SP110 Single Nucleotide Polymorphisms among Ugandans Infected with Mycobacterium tuberculosis – A Pilot Study

The Speckled 110 kD ( SP110 ) gene is a human host restriction factor for Mycobacterium tuberculosis (MTB) infection in myeloid lineage cells. We explored the influence of 10 SP110 single-nucleotide polymorphisms (SNPs) on pulmonary tuberculosis disease (PTB) among a Ugandan population. We extracted DNA from fresh peripheral blood mononuclear cells (PBMCs) of 81 PTB patients (PTB+) and 58 archived samples of household contacts (HHCs) of TB patients (PTB-). SNP-genotyping was performed for 10 SP110 SNPs on a Mass Array, and the SNPs were analysed for PTB association under different models of inheritance. All the 10 SP110 alleles were in Hardy-Weinberg equilibrium (P > = 0.05) in this population, with rs1427294 (allele frequency 0.94) the most prevalent, while rs11556887 (0.01) was the least. None of the 10 analysed alleles indicated a statistically significant association with PTB phenotype after correction for multiple comparisons. However, we noted a potential higher risk for PTB among participants with rs2241525 across multiple models of analysis. Under the dominant model, males with rs3948464 showed a trend towards higher risk for PTB disease, unlike those with rs1427294 . These findings suggest an influence of SP110 polymorphisms on the dynamics of MTB infection and PTB disease pathogenesis among the Ugandan population.