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

ROLANDELLI, AGUSTÍN; SANTILLI, MARÍA; TATEOSIAN, NANCY; PALMERO, DOMINGO; PELLEGRINI, JOAQUÍN; MORELLI, MARÍA; LEVI, ALBERTO; GARCÍA, VERÓNICA; PELLEGRINI, JOAQUÍN; MORELLI, MARÍA; LEVI, ALBERTO; GARCÍA, VERÓNICA; AMIANO, NICOLÁS; CASTELLO, FLORENCIA; CASCO, NICOLÁS; AMIANO, NICOLÁS; CASTELLO, FLORENCIA; CASCO, NICOLÁS; ROLANDELLI, AGUSTÍN; SANTILLI, MARÍA; TATEOSIAN, NANCY; PALMERO, DOMINGO

Genes

MDPI

Año: 2018 vol. 9

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 diversepopulations. Nevertheless, the genetic resistance/susceptibility to tuberculosis inArgentina is unknown.The IFNG rs1861494 polymorphism (G!A) was reported to alter the binding of transcription factorsto this region, influencing IFNG production. Using a case-control study, we found an associationbetween 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 bloodmononuclear cells (PBMCs) from healthy donors and AA carriers secreted the highest amounts ofIFNG 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 thepolymorphism and clinical parameters of tuberculosis severity was detected. However, our findingsindicate that the rs1861494 single nucleotide polymorphism (SNP) could be considered as a biomarkerof tuberculosis resistance in the Argentinean population.