In silico analysis of the impact of non-synonymous Single Nucleotide Polymorphisms (nsSNPs) in the human Il-6 gene related to autoimmune diseases

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.