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Genes 2018, 9(1), 46; https://doi.org/10.3390/genes9010046

The IFNG rs1861494 Single Nucleotide Polymorphism Is Associated with Protection against Tuberculosis Disease in Argentina

1
Facultad de Ciencias Exactas y Naturales, Departamento de Química Biológica, Pabellón II, Universidad de Buenos Aires, 4°piso, Intendente Güiraldes 2160, Ciudad Universitaria (C1428EGA), Buenos Aires, Argentina
2
Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN), CONICET-Universidad de Buenos Aires, 4°piso, Intendente Güiraldes 2160, Ciudad Universitaria (C1428EGA), Buenos Aires, Argentina
3
División Tisioneumonología Hospital F.J. Muñiz, Uspallata 2272, (C1282AEN), Buenos Aires, Argentina
*
Author to whom correspondence should be addressed.
Received: 25 October 2017 / Revised: 9 January 2018 / Accepted: 9 January 2018 / Published: 22 January 2018
(This article belongs to the Special Issue DNA Variations in Evolution and Human Diseases)
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Abstract

Interferon gamma (IFNG) plays a key role during Mycobacterium tuberculosis (Mtb) infection, and several polymorphisms located in its gene are associated with risk of tuberculosis in diverse populations. Nevertheless, the genetic resistance/susceptibility to tuberculosis in Argentina is unknown. The IFNG rs1861494 polymorphism (G→A) was reported to alter the binding of transcription factors to this region, influencing IFNG production. Using a case-control study, we found an association between the AA and AG genotypes and tuberculosis resistance (AA vs. GG: odds ratio (OR) = 0.235, p-value = 0.012; AG vs. GG: OR = 0.303, p-value = 0.044; AA vs. AG: OR = 0.776, p-value = 0.427; AA + AG vs. GG: OR = 0.270, p-value = 0.022). Moreover, Mtb-antigen stimulated peripheral blood mononuclear cells (PBMCs) from healthy donors and AA carriers secreted the highest amounts of IFNG in culture supernatants (p-value = 0.034) and presented the greatest percentage of CD4+IFNG+ lymphocytes (p-value = 0.035), in comparison with GG carriers. No association between the polymorphism and clinical parameters of tuberculosis severity was detected. However, our findings indicate that the rs1861494 single nucleotide polymorphism (SNP) could be considered as a biomarker of tuberculosis resistance in the Argentinean population. View Full-Text
Keywords: Interferon gamma; mycobacterium tuberculosis; single nucleotide polymorphism; rs1861494; tuberculosis Interferon gamma; mycobacterium tuberculosis; single nucleotide polymorphism; rs1861494; tuberculosis
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Rolandelli, A.; Pellegrini, J.M.; Amiano, N.O.; Santilli, M.C.; Morelli, M.P.; Castello, F.A.; Tateosian, N.L.; Levi, A.; Casco, N.; Palmero, D.J.; García, V.E. The IFNG rs1861494 Single Nucleotide Polymorphism Is Associated with Protection against Tuberculosis Disease in Argentina. Genes 2018, 9, 46.

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