Association between tuberculosis and a polymorphic NFkappaB binding site in the interferon gamma gene. Rossouw, M., Nel, H. J., Cooke, G. S., van Helden, P. D., & Hoal, E. G. Lancet (London, England), 361(9372):1871–1872, May, 2003. 00000
doi  abstract   bibtex   
Interferon gamma is believed to be crucial for host defence against many infections. To test the hypothesis that a polymorphism in the gene for interferon gamma (IFNG) is associated with susceptibility to tuberculosis, we did two independent investigations. In a case-control study of 313 tuberculosis cases, we noted a significant association between a polymorphism (+874A–\textgreaterT) in IFNG and tuberculosis in a South African population (p=0.0055). This finding was replicated in a family-based study, in which the transmission disequilibrium test was used in 131 families (p=0.005). The transcription factor NFkappaB binds preferentially to the +874T allele, which is over-represented in controls. This preferential binding suggests that genetically determined variability in interferon gamma and expression might be important for the development of tuberculosis.
@article{rossouw_association_2003,
	title = {Association between tuberculosis and a polymorphic {NFkappaB} binding site in the interferon gamma gene},
	volume = {361},
	issn = {0140-6736},
	doi = {10.1016/S0140-6736(03)13491-5},
	abstract = {Interferon gamma is believed to be crucial for host defence against many infections. To test the hypothesis that a polymorphism in the gene for interferon gamma (IFNG) is associated with susceptibility to tuberculosis, we did two independent investigations. In a case-control study of 313 tuberculosis cases, we noted a significant association between a polymorphism (+874A--{\textgreater}T) in IFNG and tuberculosis in a South African population (p=0.0055). This finding was replicated in a family-based study, in which the transmission disequilibrium test was used in 131 families (p=0.005). The transcription factor NFkappaB binds preferentially to the +874T allele, which is over-represented in controls. This preferential binding suggests that genetically determined variability in interferon gamma and expression might be important for the development of tuberculosis.},
	language = {eng},
	number = {9372},
	journal = {Lancet (London, England)},
	author = {Rossouw, Manda and Nel, Hendrik J. and Cooke, Graham S. and van Helden, Paul D. and Hoal, Eileen G.},
	month = may,
	year = {2003},
	pmid = {12788577},
	note = {00000 },
	keywords = {Alleles, Case-Control Studies, Genetic Predisposition to Disease, Humans, Interferon-alpha, NF-kappa B, Polymorphism, Single Nucleotide, South Africa, Tuberculosis},
	pages = {1871--1872},
}

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