AUTHOR=Pepineli Afonso Carrasco , Alves Hugo Vicentin , Tiyo Bruna Tiaki , Macedo Luciana Conci , Visentainer Lorena , de Lima Neto Quirino Alves , Zacarias Joana Maira Valentini , Sell Ana Maria , Visentainer Jeane Eliete Laguila 

TITLE=Vitamin D Receptor Gene Polymorphisms Are Associated With Leprosy in Southern Brazil

JOURNAL=Frontiers in Immunology

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2019.02157

DOI=10.3389/fimmu.2019.02157

ISSN=1664-3224

ABSTRACT=<p>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 <italic>VDR</italic> gene, such as <italic>Bsm</italic>I (G&gt;A rs1544410)<italic>, Apa</italic>I (G&gt;T rs7975232), and <italic>Taq</italic>I (T&gt;C rs731236) could affect its stability and mRNA transcription activity, while <italic>Fok</italic>I T&gt;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 <italic>per se</italic>, 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 <italic>per se</italic> (<italic>P</italic> = 0.004, OR = 0.34, CI = 0.16–0.71) and from the multibacillary clinical form (<italic>P</italic> = 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 <italic>per se</italic> 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 <italic>per se</italic> in the same age group (OR = 1.34, CI = 1.04–1.73). In conclusion, despite having found no associations between the <italic>VDR</italic> gene polymorphisms with the development of leprosy, the haplotypes formed by the <italic>Bsm</italic>I, <italic>Apa</italic>I, and <italic>Taq</italic>I polymorphisms were associated with leprosy <italic>per se</italic> and the multibacillary clinical form.</p>