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

C.A. Silva; D.C.R.O. Fernandes; A.C.O. Braga; G.C. Cavalcante; V.A. Sortica; M.H. Hutz; D.F.V.B. Leal; M.R. Fernades; M.N. Santana-da-Silva; S.E. Lopes Valente; L.F. Pastana; P.D.C. Pinto; G.E. Costa; A. Ribeiro-dos-Santos; S. Santos; N.P.C. Santos

International Journal of Infectious Diseases (Sep 2020)

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

C.A. Silva,
D.C.R.O. Fernandes,
A.C.O. Braga,
G.C. Cavalcante,
V.A. Sortica,
M.H. Hutz,
D.F.V.B. Leal,
M.R. Fernades,
M.N. Santana-da-Silva,
S.E. Lopes Valente,
L.F. Pastana,
P.D.C. Pinto,
G.E. Costa,
A. Ribeiro-dos-Santos,
S. Santos,
N.P.C. Santos

Affiliations

C.A. Silva: Faculty of Medicine, Federal University of Pará, 1 Augusto Corrêa Street, University City Prof. José Silveira Netto, CEP 66075-970, Belém, PA, Brazil
D.C.R.O. Fernandes: Laboratory of Human and Medical Genetics, Federal University of Pará, 1 Augusto Corrêa Street, University City Prof. José Silveira Netto, CEP 66075-970, Belém, PA, Brazil; Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil
A.C.O. Braga: Faculty of Medicine, Federal University of Pará, 1 Augusto Corrêa Street, University City Prof. José Silveira Netto, CEP 66075-970, Belém, PA, Brazil; Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil
G.C. Cavalcante: Laboratory of Human and Medical Genetics, Federal University of Pará, 1 Augusto Corrêa Street, University City Prof. José Silveira Netto, CEP 66075-970, Belém, PA, Brazil
V.A. Sortica: Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil; Department of Genetics, Federal University of Rio Grande do Sul, 9500 Bento Gonçalves Avenue, Building 43323M, CEP 91501-970, PO Box 15053, Porto Alegre, RS, Brazil
M.H. Hutz: Department of Genetics, Federal University of Rio Grande do Sul, 9500 Bento Gonçalves Avenue, Building 43323M, CEP 91501-970, PO Box 15053, Porto Alegre, RS, Brazil
D.F.V.B. Leal: Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil
M.R. Fernades: Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil
M.N. Santana-da-Silva: Laboratory of Human and Medical Genetics, Federal University of Pará, 1 Augusto Corrêa Street, University City Prof. José Silveira Netto, CEP 66075-970, Belém, PA, Brazil
S.E. Lopes Valente: Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil
L.F. Pastana: Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil
P.D.C. Pinto: Laboratory of Human and Medical Genetics, Federal University of Pará, 1 Augusto Corrêa Street, University City Prof. José Silveira Netto, CEP 66075-970, Belém, PA, Brazil; Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil
G.E. Costa: Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil
A. Ribeiro-dos-Santos: Laboratory of Human and Medical Genetics, Federal University of Pará, 1 Augusto Corrêa Street, University City Prof. José Silveira Netto, CEP 66075-970, Belém, PA, Brazil; Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil
S. Santos: Laboratory of Human and Medical Genetics, Federal University of Pará, 1 Augusto Corrêa Street, University City Prof. José Silveira Netto, CEP 66075-970, Belém, PA, Brazil; Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil
N.P.C. Santos: Faculty of Medicine, Federal University of Pará, 1 Augusto Corrêa Street, University City Prof. José Silveira Netto, CEP 66075-970, Belém, PA, Brazil; Laboratory of Human and Medical Genetics, Federal University of Pará, 1 Augusto Corrêa Street, University City Prof. José Silveira Netto, CEP 66075-970, Belém, PA, Brazil; Nucleus of Oncology Research, High Complexity in Oncology Unit, University Hospital João de Barros Barreto, 4487 Dos Mundurucus Street, CEP 66073-000, Belém, PA, Brazil; Corresponding author at: Núcleo de Pesquisas em Oncologia, Unidade de Alta Complexidade em Oncologia, Hospital Universitário João de Barros Barreto, Rua dos Mundurucus, 4487, CEP 66073-000, Belém, PA, Brazil.

Journal volume & issue: Vol. 98
pp. 447 – 453

Abstract

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Objectives: Tuberculosis (TB) is an infectious and contagious disease that has been very influential in human history and presents high rates of mortality. The objective of this study was to investigate the association of VDR, IL10, and SLC11A1 gene polymorphisms with susceptibility to the presence of Mycobacterium tuberculosis infection. Methods: A total of 135 patients with confirmed TB and 141 healthy individuals were included in the analysis. Blood samples were collected for DNA extraction. Genotyping of the polymorphisms in the VDR and IL10 genes was performed by real-time PCR, and genotyping of the polymorphisms in the SLC11A1 gene by conventional PCR, followed by visualization in polyacrylamide gel. The genomic ancestry was obtained using 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 the VDR gene, as well as A-592C (GC + AG, p = 0.001) in the IL10 gene, were significantly associated with susceptibility to TB In addition, high production of VDR combined with low production of IL10 showed protection for the TB group (p = 0.035). Conclusions: The VDR polymorphisms may confer an increased risk and the IL10 haplotype may be a protection factor for the presence of M. tuberculosis infection in the Brazilian population.

Published in International Journal of Infectious Diseases

ISSN: 1201-9712 (Print); 1878-3511 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Medicine: Internal medicine: Infectious and parasitic diseases
Website: http://www.journals.elsevier.com/international-journal-of-infectious-diseases/

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