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dc.contributor.authorLeón Rodríguez, Daniel Arturoes_ES
dc.contributor.authorAcosta-Herrera, Marialbertes_ES
dc.contributor.authorCarmona López, Francisco David es_ES
dc.contributor.authorDolade, Nuriaes_ES
dc.contributor.authorVargas, Sofiaes_ES
dc.contributor.authorEchevarría, Luis Eduardoes_ES
dc.contributor.authorGonzález, Clara Isabeles_ES
dc.contributor.authorMartín, Javieres_ES
dc.date.accessioned2018-02-19T11:34:16Z
dc.date.available2018-02-19T11:34:16Z
dc.date.issued2018-01-05
dc.identifier.citationLeón Rodríguez, D.A.; et al. Comprehensive analysis of three TYK2 gene variants in the susceptibility to Chagas disease infection and cardiomyopathy. Plos One, 13(1): e0190591 (2018). [http://hdl.handle.net/10481/49617]es_ES
dc.identifier.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/10481/49617
dc.description.abstractTyrosine kinase 2 (TYK2) is a member of the Janus kinases family implicated in the signal transduction of type I interferons and several interleukins. It has been described that genetic mutations within TYK2 lead to multiple deleterious effects in the immune response. In this work, we have analyzed three functional independent variants from the frequency spectrum on the TYK2 gene (common and low-frequency variants) suggested to reduce the function of the gene in mediating cytokine signaling and the susceptibility to infections by Trypanosoma cruzi and/or the development of Chagas cardiomyopathy in the Colombian population. A total of 1,323 individuals from a Colombian endemic region for Chagas disease were enrolled in the study. They were classified as seronegative (n = 445), seropositive asymptomatic (n = 336), and chronic Chagas Cardiomyopathy subjects (n = 542). DNA samples were genotyped using TaqMan probes. Our results showed no statistically significant differences between the allelic frequencies of the three analyzed variants when seropositive and seronegative individuals were compared, therefore these variants were not associated with susceptibility to Chagas disease. Moreover, when Chagas cardiomyopathy patients were compared to asymptomatic patients, no significant associations were found. Previous reports highlighted the association of this gene in immune-related disorders under an autoimmunity context, but not predisposing patients to infectious diseases, which is consistent with our findings. Therefore, according to our results, TYK2 gene variants do not seem to play an important role in Chagas disease susceptibility and/or chronic Chagas cardiomyopathy.en_EN
dc.description.sponsorshipThis work has received support from the grant nº 1102-519-29071 from the Departamento Administrativo de Ciencia, Tecnología e Innovación, Colciencias (http://www.colciencias.gov.co), and the Universidad Industrial de Santander, Bucaramanga, Colombia, CIG. This study is part of the “Red Iberoamericana de Medicina Genómica en Enfermedad de Chagas” (RIMGECH-217RT0524). MAH is recipient of a Juan de la Cierva fellowship (FJCI-2015-24028) and FDC is recipient of a grant from the Ramon y Cajal programme (RYC-2014-16458), both from the Spanish Ministry of Economy, Industry and Competitiveness.en_EN
dc.language.isoenges_ES
dc.publisherPublic Library of Sciencees_ES
dc.rightsCreative Commons Attribution-NonCommercial-NoDerivs 3.0 Licensees_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/es_ES
dc.subjectChagas diseaseen_EN
dc.subjectCardiomyopathiesen_EN
dc.subjectTrypanosoma cruzien_EN
dc.subjectCytokines en_EN
dc.subjectGenetics of diseaseen_EN
dc.subjectImmune responseen_EN
dc.subjectVariant genotypesen_EN
dc.subjectParasitic diseases en_EN
dc.titleComprehensive analysis of three TYK2 gene variants in the susceptibility to Chagas disease infection and cardiomyopathyen_EN
dc.typeinfo:eu-repo/semantics/articleen_EN
dc.rights.accessRightsinfo:eu-repo/semantics/openAccessen_EN
dc.identifier.doi10.1371/journal.pone.0190591


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