MEDICAL INFORMATICS IV
THE ROLE OF DATABASES AND INFORMATICS SYSTEMS IN THE DETECTION OF GENETIC VARIANTS RELATED TO BUERGER’S DISEASE
Yayıncı:
İstanbul Üniversitesi Yayınları
Thromboangiitis obliterans (TAO), or Buerger’s disease, is a segmental occlusive inflammatory disease of arteries and veins, and its etiopathogenesis is still unclear. It is closely linked to the use of tobacco products, especially cigarettes. When trying to figure out how Buerger’s disease works at the molecular level, it is very important to look into single nucleotide polymorphisms (SNPs) that may be linked to thromboangiitis obliterans. In this study, it was aimed at determining the genes and genetic variants associated with Buerger’s disease by using informatics systems over the DisGeNET database. DisGeNET is a platform that provides information on genedisease and variant-disease relationships in human diseases. Single nucleotide variants (SNV), known to be risk factors associated with Buerger’s disease, have been identified from data obtained from the DisGeNET database. Then, in order to reveal the effects of these SNVs, their evaluations were made on the SNPedia database. SNPedia focuses on the medical, phenotypic, and genealogical relationships of SNVs. The data are formatted to allow these associations to be assigned to single genotypes and genotype sets. According to this, Intron variants rs10178082 in the MGC4859 gene, rs376511 in the IL17RC gene, and rs7632505 in the SEMA5B gene have been found to be associated with the development of Buerger’s disease. In conclusion, SNPs in the MGC4859, IL17RC, and SEMA5B genes have a significant impact on determining the onset and progression of Buerger’s disease. The rs376511 polymorphism speeds up endothelial dysfunction by interfering with how the IL17RC gene works. This causes Buerger to form and get worse. It was determined that the SEM5B rs7632505 polymorphism affects vascular endothelial cells and initiates the angiogenesis process. Detection of these polymorphisms will allow us to elucidate the pathogenesis of Buerger’s disease and explore the molecular mechanisms underlying the inflammatory process. Identifying pathogenic variants with the help of informatics systems may enable new molecular treatments to suppress the inflammatory process that occurs during the disease
