Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis : a case-control association study

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dc.contributor.authorMoller, Marlo
dc.contributor.authorNebel, Almut
dc.contributor.authorVan Helden, Paul D.
dc.contributor.authorSchreiber, Stefan
dc.contributor.authorHoal, Eileen G.
dc.date.accessioned2013-05-02T07:30:43Z
dc.date.available2013-05-02T07:30:43Z
dc.date.issued2010-06
dc.descriptionPublication of this article was funded by the Stellenbosch University Open Access Fund.en_ZA
dc.descriptionThe original publication is available at http://www.biomedcentral.com/bmcinfectdis/en_ZA
dc.description.abstractBackground: Interferon gamma is a major macrophage-activating cytokine during infection with Mycobacterium tuberculosis, the causative pathogen of tuberculosis, and its role has been well established in animal models and in humans. This cytokine is produced by activated T helper 1 cells, which can best deal with intracellular pathogens such as M. tuberculosis. Based on the hypothesis that genes which regulate interferon gamma may influence tuberculosis susceptibility, we investigated polymorphisms in eight candidate genes. Methods: Fifty-four polymorphisms in eight candidate genes were genotyped in over 800 tuberculosis cases and healthy controls in a population-based case-control association study in a South African population. Genotyping methods used included the SNPlex Genotyping System™, capillary electrophoresis of fluorescently labelled PCR products, TaqMan® SNP genotyping assays or the amplification mutation refraction system. Single polymorphisms as well as haplotypes of the variants were tested for association with TB using statistical analyses. Results: A haplotype in interleukin 12B was nominally associated with tuberculosis (p = 0.02), but after permutation testing, done to assess the significance for the entire analysis, this was not globally significant. In addition a novel allele was found for the interleukin 12B D5S2941 microsatellite. Conclusions: This study highlights the importance of using larger sample sizes when attempting validation of previously reported genetic associations. Initial studies may be false positives or may propose a stronger genetic effect than subsequently found to be the case.en_ZA
dc.description.sponsorshipStellenbosch University Open Access Funden_ZA
dc.description.versionPublishers' versionen_ZA
dc.format.extent9 p. : ill.
dc.identifier.citationMoller, M. et al. 2010. Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study. BMC Infectious Diseases, 10:154, doi: 10.1186/1471-2334-10-154.en_ZA
dc.identifier.issn1471-2334 (print)
dc.identifier.issn1471-2334 (online)
dc.identifier.otherdoi: 10.1186/1471-2334-10-154
dc.identifier.urihttp://hdl.handle.net/10019.1/80715
dc.language.isoen_ZAen_ZA
dc.publisherBioMed Centralen_ZA
dc.rights.holderAuthors retain copyrighten_ZA
dc.subject.lcshInterleukin-18en_ZA
dc.subject.lcshCytokinesen_ZA
dc.subject.lcshInterferon-gamma (IFN-gamma)-inducing factoren_ZA
dc.subject.lcshTuberculosis -- Genetic aspectsen_ZA
dc.subject.lcshCytokines -- Therapeutic use.en_ZA
dc.titleAnalysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis : a case-control association studyen_ZA
dc.typeArticleen_ZA
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