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Differential distribution in vitamin D receptor gene variants and expression profile in Northeast Brazil influences upon active pulmonary tuberculosis.
de Albuquerque Borborema, Maria Eduarda; de Souza Pereira, Jorge José; Dos Santos Peixoto, Aline; Crovella, Sergio; Schindler, Haiana Charifker; da Silva Rabello, Michelle Christiane; de Azevêdo Silva, Jaqueline.
Afiliación
  • de Albuquerque Borborema ME; Department of Genetics, Federal University of Pernambuco, Recife, Pernambuco, Brazil.
  • de Souza Pereira JJ; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco, Av. Prof. Moraes Rego, 1235, Recife, Pernambuco, CEP 50760-901, Brazil.
  • Dos Santos Peixoto A; Department of Genetics, Federal University of Pernambuco, Recife, Pernambuco, Brazil.
  • Crovella S; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco, Av. Prof. Moraes Rego, 1235, Recife, Pernambuco, CEP 50760-901, Brazil.
  • Schindler HC; Oswaldo Cruz Foundation, Aggeu Magalhães Research Centre (FIOCRUZ/CPqAM), Federal University of Pernambuco, Recife, Pernambuco, Brazil.
  • da Silva Rabello MC; Department of Genetics, Federal University of Pernambuco, Recife, Pernambuco, Brazil.
  • de Azevêdo Silva J; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco, Av. Prof. Moraes Rego, 1235, Recife, Pernambuco, CEP 50760-901, Brazil.
Mol Biol Rep ; 47(9): 7317-7322, 2020 Sep.
Article en En | MEDLINE | ID: mdl-32880832
Tuberculosis is an infectious disease with variable outcomes. This variability is due to host immune capacity in containing the infection process initiated by the Mycobacterium tuberculosis (MTB). Vitamin D is able to modulate a very specific immune response against MTB infection, and its action relies on vitamin D receptor (VDR) binding. Altered VDR forms may compromise vitamin D pathway and proper immune response after MTB infection. Herein we assessed the relationship of five potentially functional polymorphisms from VDR: rs2228570 FokI, rs11568820 Cdx-2, rs2248098, rs1540339 and rs4760648, with tuberculosis susceptibility. The SNP rs4760648 T/T was associated with differential susceptibility to tuberculosis (OR = 2.50, 95%CI = 1.20-5.36, p = 0.01). The SNP rs1540339 presented association to both T allele (OR = 0.55, 95%CI = 0.35-0.88, p = 0.01) and the T/T genotype (OR = 0.404, 95%CI = 0.20 - 0.78, p = 0.005). The FokI T allele was identified as associated to diminished susceptibility (OR = 0.67, 95% CI = 0.45-0.99, p = 0.04) to active TB, as well as T/T genotype (OR = 0.15, 95%CI = 0.04-0.45, p = 9.58 × 10-5). We also performed the expression analyses and observed a down-regulation of VDR in patients (-10.717 FC, p = 8.42e-12), and according to the presence of associated FokI SNP, we observed that the C/T and T/T genotypes presence increases VDR expression (+ 1.25 and + 2.35 FC, p = 0.425 and p = 0.506, respectively). This study shows that vitamin D receptor variants can influence upon pulmonary tuberculosis susceptibility and VDR mRNA levels are decreased in those patients.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tuberculosis Pulmonar / Receptores de Calcitriol / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Mycobacterium tuberculosis Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Middle aged País/Región como asunto: America do sul / Brasil Idioma: En Revista: Mol Biol Rep Año: 2020 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Países Bajos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tuberculosis Pulmonar / Receptores de Calcitriol / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Mycobacterium tuberculosis Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Middle aged País/Región como asunto: America do sul / Brasil Idioma: En Revista: Mol Biol Rep Año: 2020 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Países Bajos