GENOMIC IDENTIFICATION OF NON-SYNONYMOUS VARIANTS OF THE IL1A GENE ASSOCIATED WITH HUMAN DISEASES BY BIOINFORMATICS ANALYSIS

Abstract

Interleukin-1 alpha is a cytokine that stands out for its essential pro-inflammatory role that works by activating key cells to fight infections. Some genetic mutations can promote the replacement of amino acids in this protein, leading to consequences that may be associated with diseases. Thus, this work sought to identify Single Nucleotide Polymorphisms (SNPs) of high risk to human health and predict their morphofunctional effects on the protein. The variants were located in the IL1A-201 transcript, available in the ENSEMBL genomic database. After selecting the missense variants, we used the SIFT, PolyPhen-2, MetaLR and Mutation Assessor programs to predict the impacts of amino acid substitutions on protein function and structure. Our analysis revealed the presence of the rs1190431689 variant, which is the change from an Alanine to a Valine, the rs997926639, which corresponds to the change from a Proline to a Serine, and the rs1681201328 variant, which represents the replacement of a Glutamic Acid by a Glycine. All these polymorphisms presented Deleterious (SIFT), Probably Harmful (PolyPhen-2) and Harmful (MetaLR) results in the prediction software, which indicates that these are variants that can be of high risk to human health and can be associated with the development of several pathologies.