Investigation of genetic susceptibility to Mycobacterium tuberculosis (VDR and IL10 genes) in a population with a high level of substructure in the Brazilian Amazon region.

Abstract Objectives Tuberculosis (TB) is an infectious and contagious disease that is very influential in human history and presents high rates of mortality. The objective of this study was to investigate the association ofVDR, IL10 and SLC11A1 gene polymorphisms with susceptibility to presence of tuberculosis infection. Methods A total of 135 patients with confirmed tuberculosis and 141 healthy individuals were analyzed. Blood samples were collected for DNA extraction. Genotyping of the polymorphisms in VDR and IL10 genes was performed with real-time PCR and, in SLC11A1 gene, with conventional PCR followed by visualization in polyacrylamide gel. Genomic ancestry was obtained by an autosomal panel with 48 insertion/deletion ancestry informative markers. Results Polymorphisms TaqI (TT, p = 0.004), FokI (CC and CC + CT, p = 0.012 and p = 0.003, respectively), and BsmI (GG, p = 0.008) in VDR gene, as well as A-592C ( GC + AG, p = 0.001) in IL10 gene, were significantly associated to TB susceptibility. In addition, high production of VDR combined with low production of IL10 showed protection for TB group (p = 0.035). Conclusions The VDR polymorphisms may confer an increased risk and the IL10 haplotype may be a protection factor to presence of tuberculosis infection in the Brazilian population.