Published online 01 15, 2022 ISSN 2763-5392 In silico analysis of the impact of non-synonymous Single Nucleotide Polymorphisms (nsSNPs) in the human Il-6 gene related to autoimmune diseases Arthur Felipe Ferreira de Freitas¹; Nara Suzy Aguiar de Freitas 2 ; Martín Alejandro Montes 3 ; Maria de Mascena Diniz Maia 4 * 1-4 Department of Biology, Genetics, Federal Rural University of Pernambuco, Recife, Brazil. E-mail adresses: arthurffreitas16@gmail.com (Arthur Felipe Ferreira de Freitas), nara.safreitas@ufrpe.br (Nara Suzy Freitas Aguiar), martin.montes@ufrpe.br (Martín Alejandro Montes), mascenadiniz@hotmail.com (Maria de Mascena Diniz Maia) * Corresponding author To cite this article: Freitas, A.F.F.; Freitas, N.S.A.; Montes, M.A.; Maia, M.M.D. In silico analysis of the impact of non-synonymous Single Nucleotide Polymorphisms (nsSNPs) in the human Il-6 gene related to autoimmune diseases. International Journal of Sciences. Vol. 3, No. 1, 2022, pp.01-05. ISSN 2763-5392. Received: 11 24, 2021; Accepted: 11 25, 2021; Published: 01 15, 2022 Abstract: Non-synonymous single nucleotide polymorphisms (nsSNPs) represent a common genetic variation that alters amino acids encoded in proteins. All nsSNPs can potentially affect the structure or function of expressed proteins and therefore can have an impact on complex diseases. Interleukin 6 is a cytokine that acts on the immune system, with anti-inflammatory or pro-inflammatory actions depending on the cell in which it was produced. Overproduction of this cytokine results in complications in various autoimmune diseases, such as ankylosing spondylitis and rheumatoid arthritis. From genetic sequence research in the Ensembl database and software for protein analysis, it was possible to locate five missenses’ mutations (rs1282201857, rs1583431936, rs1257406129, rs756681741 and rs2069849) that affect the expression of the IL6 gene, whose impact leads to the emergence of complex diseases. Keywords: IL-6. Genetic polymorphisms. Autoimmune diseases. Bioinformatics. In silico. nsSNPs. 1. Introduction Autoimmune diseases are those in which the response given to autoantigens, by the immune system, causes tissue damage or dysfunction. These diseases can act in a systemic way or may directly affect specific organs or systems of the body (Mackay and Burnet, 1963 apud NGO ST, et al., 2014). Sand develops in individuals with some genetic predisposition and who are exposed to environmental conditions favorable to the onset of the disease (WANG, L et al., 2015). Advances in scientific studies suggest that autoimmune diseases are induced through the interaction of genetic factors and epigenetic alterations that arise from the influence of the environment (HEWAGAMA; RICHARDSON, 2009). However, there are still not enough genetic tools to predict the risk of these diseases (WANG, L et al., 2015). IL-6 is a pleiotropic cytokine that is pro-inflammatory because it induces the synthesis of acute phase proteins, besides stimulating the differentiation and clonal expansion of B lymphocytes, contributing to the production of immunoglobulins (Hunter CA, Jones AS, 2015). It is usually produced at low levels; however, it is related to numerous infectious, inflammatory, autoimmune diseases and in some types of cancer when its production is elevated to serum levels (TRIKHA, et al., 2003). Its synthesis is performed by several cell types, including endothelial cells, fibroblasts, monocytes and others (ROSSI, et al., 2015). The use of anti-IL6 therapy is an alternative for reducing inflammation caused by overproduction of this cytokine. Its blockade showed positive results in the therapeutic efficacy of the records of medicines used in Castleman's disease and inflammatory diseases such as rheumatoid arthritis and Crohn's disease (ROSSI; et al., 2015). Single nucleotide polymorphisms (SNPs) are the main and most frequent forms of variations that occur in the human