Association of the polymorphism of the vitamin D receptor gene (VDR) with the risk of leprosy in the Brazilian Amazon

• Autor(a) principal: Paz, Jasna Letícia Pinto
• Data de Publicação: 2021
• Outros Autores: Silvestre, Maria do Perpetuo Socorro Amador, Moura, Letícia Siqueira, Furlaneto, Ismari Perini, Rodrigues, Yan Corrêa, Lima, Karla Valéria Batista, Lima, Luana Nepomuceno Gondim Costa
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Digital do Instituto Evandro Chagas (Patuá)
• Texto Completo: http://patua.iec.gov.br//handle/iec/4395
• topic: Hanseníase / patologia; Mycobacterium leprae / patogenicidade; Receptores de Calcitriol; Polimorfismo de Nucleotídeo Único / imunologia; Técnicas de Genotipagem / métodos; Genótipo; Biomarcadores / análise

The transmission and evolution of leprosy depends on several aspects, including immunological and genetic factors of the host, as well as genetic factors of Mycobacterium leprae. The present study evaluated the association of single nucleotide polymorphisms (SNPs) on the FokI (rs2228570), TaqI (rs731236), ApaI (rs7975232) regions of the vitamin D receptor (VDR) gene with leprosy. A total of 405 individuals were evaluated, composed by groups of 100 multibacillary (MB) and 57 paucibacillary (PB) patients, and 248 healthy contacts. Blood samples were collected from patients and contacts. The genotyping was performed by sequencing of the interest regions. The alleles of the studied SNPs, and SNP FokI genotypes, were not associated with leprosy. For the SNP on TaqI region, the relationship between the tt genotype, and for the SNP ApaI, the AA genotype, revealed an association with susceptibility to MB form, while Aa genotype with protection. The extended genotypes AaTT and AaTt of ApaI and TaqI were associated with protection against MB form. Further studies analyzing the expression of the VDR gene and the correlation with its SNPs might help to clarify the role of polymorphisms on the immune response in leprosy.