Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis

Detalhes bibliográficos
Autor(a) principal: Motsinger-Reif, Alison A.
Data de Publicação: 2010
Outros Autores: Antas, Paulo R. Z., Oki, Noffisat O., Levy, Shawn, Holland, Steven M., Sterling, Timothy R.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/26470
Resumo: North Carolina State University. Bioinformatics Research Center. Department of Statistics. Raleigh, NC, USA.
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spelling Motsinger-Reif, Alison A.Antas, Paulo R. Z.Oki, Noffisat O.Levy, ShawnHolland, Steven M.Sterling, Timothy R.2018-05-17T13:52:37Z2018-05-17T13:52:37Z2010MOTSINGER-REIF, Alison A. et al. Polymorphisms in IL-1b, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis. BMC Medical Genetics, v.11:37, 10p, 2010.1471-2350https://www.arca.fiocruz.br/handle/icict/2647010.1186/1471-2350-11-37engBioMed CentralTuberculoseTuberculose extrapulmonarPolimorfismosReceptor 2 Toll-LikeGenética Humanaextrapulmonary tuberculosisPolymorphismshuman geneticsvitamin D receptor Fok1Toll-like receptor 2Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosisinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleNorth Carolina State University. Bioinformatics Research Center. Department of Statistics. Raleigh, NC, USA.Vanderbilt University School of Medicine. Department of Medicine. Division of Infectious Dieseases. Nashville, Tennessee, USANorth Carolina State University. Bioinformatics Research Center. Department of Statistics. Raleigh, NC, USA.Vanderbilt University School of Medicine. Department of Biomedical Informatics. Nashville, Tennessee, USA.National Institutes of Health. Laboratory of Clinical Infectious Diseases. Bethesda, MD, USA.Vanderbilt University School of Medicine. Department of Medicine. Division of Infectious Dieseases. Nashville, Tennessee, USA / Vanderbilt University School of Medicine. Department of Medicine.. Center for Health Services Research. Nashville, TN, USA.. Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Imunologia Clínica. Rio de Janeiro, RJ, Brasil.Background: Human genetic variants may affect tuberculosis susceptibility, but the immunologic correlates of the genetic variants identified are often unclear. Methods: We conducted a pilot case-control study to identify genetic variants associated with extrapulmonary tuberculosis in patients with previously characterized immune defects: low CD4+ lymphocytes and low unstimulated cytokine production. Two genetic association approaches were used: 1) variants previously associated with tuberculosis risk; 2) single nucleotide polymorphisms (SNPs) in candidate genes involved in tuberculosis pathogenesis. Single locus association tests and multifactor dimensionality reduction (MDR) assessed main effects and multi-locus interactions. Results: There were 24 extrapulmonary tuberculosis cases (18 black), 24 pulmonary tuberculosis controls (19 black) and 57 PPD+ controls (49 black). In approach 1, 22 SNPs and 3 microsatellites were assessed. In single locus association tests, interleukin (IL)-1b +3953 C/T was associated with extrapulmonary tuberculosis compared to PPD+ controls (P = 0.049). Among the sub-set of patients who were black, genotype frequencies of the vitamin D receptor (VDR) Fok1 A/G SNP were significantly different in extrapulmonary vs. pulmonary TB patients (P = 0.018). In MDR analysis, the toll-like receptor (TLR) 2 microsatellite had 76% prediction accuracy for extrapulmonary tuberculosis in blacks (P = 0.002). In approach 2, 613 SNPs in 26 genes were assessed. None were associated with extrapulmonary tuberculosis. Conclusions: In this pilot study among extrapulmonary tuberculosis patients with well-characterized immune defects, genetic variants in IL-1b, VDR Fok1, and TLR2 were associated with an increased risk of extrapulmonary disease. Additional studies of the underlying mechanism of these genetic variants are warranted.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/26470/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALpaulorz_antas_etal_IOC_2010.pdfpaulorz_antas_etal_IOC_2010.pdfapplication/pdf388528https://www.arca.fiocruz.br/bitstream/icict/26470/2/paulorz_antas_etal_IOC_2010.pdfa3221660e0f6bf9677d1e185f0c331cfMD52TEXTpaulorz_antas_etal_IOC_2010.pdf.txtpaulorz_antas_etal_IOC_2010.pdf.txtExtracted texttext/plain50251https://www.arca.fiocruz.br/bitstream/icict/26470/3/paulorz_antas_etal_IOC_2010.pdf.txtd81fa2eb5c493f93c430339818ab3eb9MD53icict/264702018-08-15 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dc.title.pt_BR.fl_str_mv Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
title Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
spellingShingle Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
Motsinger-Reif, Alison A.
Tuberculose
Tuberculose extrapulmonar
Polimorfismos
Receptor 2 Toll-Like
Genética Humana
extrapulmonary tuberculosis
Polymorphisms
human genetics
vitamin D receptor Fok1
Toll-like receptor 2
title_short Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
title_full Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
title_fullStr Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
title_full_unstemmed Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
title_sort Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
author Motsinger-Reif, Alison A.
author_facet Motsinger-Reif, Alison A.
Antas, Paulo R. Z.
Oki, Noffisat O.
Levy, Shawn
Holland, Steven M.
Sterling, Timothy R.
author_role author
author2 Antas, Paulo R. Z.
Oki, Noffisat O.
Levy, Shawn
Holland, Steven M.
Sterling, Timothy R.
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Motsinger-Reif, Alison A.
Antas, Paulo R. Z.
Oki, Noffisat O.
Levy, Shawn
Holland, Steven M.
Sterling, Timothy R.
dc.subject.other.pt_BR.fl_str_mv Tuberculose
Tuberculose extrapulmonar
Polimorfismos
Receptor 2 Toll-Like
Genética Humana
topic Tuberculose
Tuberculose extrapulmonar
Polimorfismos
Receptor 2 Toll-Like
Genética Humana
extrapulmonary tuberculosis
Polymorphisms
human genetics
vitamin D receptor Fok1
Toll-like receptor 2
dc.subject.en.pt_BR.fl_str_mv extrapulmonary tuberculosis
Polymorphisms
human genetics
vitamin D receptor Fok1
Toll-like receptor 2
description North Carolina State University. Bioinformatics Research Center. Department of Statistics. Raleigh, NC, USA.
publishDate 2010
dc.date.issued.fl_str_mv 2010
dc.date.accessioned.fl_str_mv 2018-05-17T13:52:37Z
dc.date.available.fl_str_mv 2018-05-17T13:52:37Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv MOTSINGER-REIF, Alison A. et al. Polymorphisms in IL-1b, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis. BMC Medical Genetics, v.11:37, 10p, 2010.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/26470
dc.identifier.issn.pt_BR.fl_str_mv 1471-2350
dc.identifier.doi.none.fl_str_mv 10.1186/1471-2350-11-37
identifier_str_mv MOTSINGER-REIF, Alison A. et al. Polymorphisms in IL-1b, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis. BMC Medical Genetics, v.11:37, 10p, 2010.
1471-2350
10.1186/1471-2350-11-37
url https://www.arca.fiocruz.br/handle/icict/26470
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
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