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http://purl.uniprot.org/citations/20196868http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20196868http://www.w3.org/2000/01/rdf-schema#comment"

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)-1beta +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-1beta, 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."xsd:string
http://purl.uniprot.org/citations/20196868http://purl.org/dc/terms/identifier"doi:10.1186/1471-2350-11-37"xsd:string
http://purl.uniprot.org/citations/20196868http://purl.uniprot.org/core/author"Levy S."xsd:string
http://purl.uniprot.org/citations/20196868http://purl.uniprot.org/core/author"Holland S.M."xsd:string
http://purl.uniprot.org/citations/20196868http://purl.uniprot.org/core/author"Sterling T.R."xsd:string
http://purl.uniprot.org/citations/20196868http://purl.uniprot.org/core/author"Antas P.R."xsd:string
http://purl.uniprot.org/citations/20196868http://purl.uniprot.org/core/author"Motsinger-Reif A.A."xsd:string
http://purl.uniprot.org/citations/20196868http://purl.uniprot.org/core/author"Oki N.O."xsd:string
http://purl.uniprot.org/citations/20196868http://purl.uniprot.org/core/date"2010"xsd:gYear
http://purl.uniprot.org/citations/20196868http://purl.uniprot.org/core/name"BMC Med Genet"xsd:string
http://purl.uniprot.org/citations/20196868http://purl.uniprot.org/core/pages"37"xsd:string
http://purl.uniprot.org/citations/20196868http://purl.uniprot.org/core/title"Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis."xsd:string
http://purl.uniprot.org/citations/20196868http://purl.uniprot.org/core/volume"11"xsd:string
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http://purl.uniprot.org/uniprot/#_A0A8H2SA48-mappedCitation-20196868http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/20196868
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