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Acta Médica Costarricense

versão On-line ISSN 0001-6002versão impressa ISSN 0001-6012


BETANCOURTH-ARTEAGA, Isabella; RODRIGUEZ-PATINO, Erika; FABIAN-GOMEZ, Romel  e  CHAVEZ-VIVAS, Mónica. Single nucleotide variation in cytokine genes as disease markers. Acta méd. costarric [online]. 2022, vol.64, n.1, pp.20-33. ISSN 0001-6002.


To describe the association of variations in cytokine genes that participate in the inflammatory process with the susceptibility and clinical severity of diseases.


A documentary study was carried out with a review of the scientific literature of the database: Pubmed, Science Direct, Scopus, Scielo, PLOS, Hinari, Redalyc, Dialnet, Taylor, ProQuest. Eighty-four references were reviewed that included research articles, systematic reviews and meta-analyzes, using the terms ''Variants'', ''Single Nucleotide Variation'', ''Proinflammatory cytokines'', ''Anti-inflammatory cytokines'', ''Interleukins'', ''Tumor Necrosis Factor'', ''genetic susceptibility'', ''diseases'', pathologies''.


The evidence indicates that Single Nucleotide Variants are detected mainly in promoter regions of genes that code for cytokines that regulate inflammatory processes such as: IL-1, IL-6, IL-8, IL-10, IL-12, IL -17, IL-18, IL-22 and tumoral necrosis factor.


The expression and differential production of these cytokines play a role in the pathogenesis and predisposition to diseases, especially metabolic, malignant, autoimmune, and infectious. A differential effect of variants according to ethnic characteristics is also observed, which turns out to be an effective tool to be used in preventive medicine.

Palavras-chave : Cytokines; interleukin; tumor necrosis factor; single nucleotide variation; single nucleotide polymorphism; disease susceptibility.

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