Abstract
Vitamin D, together with its nuclear receptor (VDR), plays an important role in modulating the immune response, decreasing the inflammatory process. Some polymorphisms of the VDR gene, such as BsmI (G>A rs1544410), ApaI (G>T rs7975232), and TaqI (T>C rs731236) could affect its stability and mRNA transcription activity, while FokI T>C (rs2228570) gives a truncated protein with three fewer amino acids and more efficiency in binding vitamin D. This study evaluated these four polymorphisms in the immunopathogenesis of leprosy in 404 patients and 432 control individuals without chronic or infectious disease in southern Brazil. When analyzing differences in the allele and genotype frequency of polymorphisms between patients (leprosy per se, multibacillary, and paucibacillary clinical forms) and controls, we found no statistically significant association. Regarding haplotype analysis, the bAt haplotype was associated with protection from leprosy per se (P = 0.004, OR = 0.34, CI = 0.16–0.71) and from the multibacillary clinical form (P = 0.005, OR = 0.30, CI = 0.13–0.70). In individuals aged 40 or more years, this haplotype has also showed protection against leprosy per se and multibacillary (OR = 0.26, CI = 0.09–0.76; OR = 0.26, CI = 0.07–0.78, respectively), while the BAt haplotype was a risk factor for leprosy per se in the same age group (OR = 1.34, CI = 1.04–1.73). In conclusion, despite having found no associations between the VDR gene polymorphisms with the development of leprosy, the haplotypes formed by the BsmI, ApaI, and TaqI polymorphisms were associated with leprosy per se and the multibacillary clinical form.
Highlights
Leprosy is a chronic granulomatous disease caused by Mycobacterium leprae, which mainly affects macrophages of the skin, Schwann cells of the peripheral nerve, and eventually other organs and systems [1]
Considering the role that the active metabolite of vitamin D receptor (VDR) exert in the mechanisms of immunity, this study evaluated the association of SNPs of the VDR gene (FokI, BsmI, Apal, and TaqI) with the immunopathogenesis and clinical forms of leprosy
PB, Paucibacillary; MB, Multibacillary; N, population size; n, number of individuals; %, percentage. In this case-control study, allele and genotype frequency distributions of FokI T>C, BsmI G>A, ApaI G>T, and TaqI T>C SNPs were analyzed in a total of 404 patients with leprosy per se and 432 controls
Summary
Leprosy is a chronic granulomatous disease caused by Mycobacterium leprae, which mainly affects macrophages of the skin, Schwann cells of the peripheral nerve, and eventually other organs and systems [1]. Leprosy is among the three neglected diseases with the highest prevalence worldwide. According to the World Health Organization (WHO), in 2017 its incidence reached 210,671 new cases of the disease worldwide. In Brazil, the number of new cases registered in that year was more than 26,000. This sets Brazil at the second place in the ranking of countries with the largest number of leprosy cases in the world [2].
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