analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis a case-control association study分析八个基因调节干扰素γ和人类遗传易感性肺结核病例对照关联研究.pdfVIP
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analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis a case-control association study分析八个基因调节干扰素γ和人类遗传易感性肺结核病例对照关联研究
Möller et al. BMC Infectious Diseases 2010, 10:154
/1471-2334/10/154
R E S E A R C H A R T I C L E Open Access
Research article
Analysis of eight genes modulating interferon
gamma and human genetic susceptibility to
tuberculosis: a case-control association study
1 2 1 2 1
Marlo Möller* , Almut Nebel , Paul D van Helden , Stefan Schreiber and Eileen G Hoal
Abstract
Background: 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.
Co
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