Association between tuberculosis and a polymorphic NFκB binding site in the interferon γ gene

IFNG polymorphisms are associated with gender differences in susceptibility to multiple sclerosis

“…57 This polymorphism was also found to be strongly associated with susceptibility to tuberculosis in South Africa both in populationbased and family-based association studies. 58 LD between these markers and, as demonstrated in our study, between I1(761)*CA n and the 3 0 (325)*G-A SNP, may lend a functional relevance to our observations. Alternatively, a yet to be identified polymorphism in LD with the relevant haplotypes as described could be responsible for the effect.…”

Genetic polymorphisms in vitamin D receptor, vitamin D-binding protein, Toll-like receptor 2, nitric oxide synthase 2, and interferon-γ genes and its association with susceptibility to tuberculosis

“…The AA genotype in +874T/A region is associated with increased tuberculosis susceptibility in Spanish and South African populations (48,50), but not in Croatian and North American populations (51,52). Few studies have been conducted in the Brazilian admixed population regarding IFN-γ polymorphisms at position +874 and its correlation, if any with infectious diseases.…”

“…This polymorphism lies within a binding site for the transcription factor NF-κB, and electrophoretic mobility shift assays showed specific binding of NF-κB to the allele sequence containing the +874 IFN-γ T allele (47). As this transcription factor induces IFN-γ expression, +874T IFN-γ T and A alleles probably correlate with high and low IFN-γ expression, respectively (48). In addition, Ottenhoff et al (49) discovered several families with Mendelian susceptibility to mycobacterial disease that has mutations in one of two subunits of the IFN-γ receptor gene (IFN-γ R1 and IFN-γ R2).…”

“…In addition, Ottenhoff et al (49) discovered several families with Mendelian susceptibility to mycobacterial disease that has mutations in one of two subunits of the IFN-γ receptor gene (IFN-γ R1 and IFN-γ R2). More recent data suggested that a more common polymorphism at position +874 is associated with risk of tuberculosis in different populations (48,50). IFN-γ acts as a regulator of gene expression through activation by a receptor complex comprising two subunits, each encoded by a different gene: IFN-γ R1 on chromosome 6, region q23-24 and IFN-γ R2 on chromosome 21 region q22.1-22.2.…”

Genome-wide SNP-based linkage analysis of tuberculosis in Thais

“…6 Various association studies implicated this as one of the key pathways for containing tuberculosis. [7][8][9] Mutation in genes with ubiquitination functions have also been implicated as risks in both tuberculosis and leprosy. 10,11 On the basis of databases of genetic association study, nearly 100 genes had been studied for their association with tuberculosis.…”