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Puzyrev, V. P.; Freidin, Maxim B.; Rudko, A. A.; Стрелис, А. К.; Колоколова, О. В.

doi:10.1023/a:1020611111205

Cited by 11 publications

(1 citation statement)

References 13 publications

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“…Since the (ATT) 7 , (ATT) 8 and (ATT) 9 alleles were previously identified in individuals from European and Asian descent, we speculate that the (ATT) 10 allele is a genetic contribution from the African parental population of the SAC. The 3'UTR IL12B SNP (rs3212227) [70,71] may influence gene expression levels and has previously been associated with TB in various populations [68,72-74], but not in all [60,75,76]. This polymorphism was not associated with TB in our study either.…”

Section: Resultscontrasting

confidence: 52%

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

et al. 2010

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BackgroundInterferon 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.MethodsFifty-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.ResultsA 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.ConclusionsThis 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.

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