MEDICAL INFORMATICS IV
INVESTIGATION OF RAYNAUD’S PHENOMENON-RELATED GENES, PATHWAYS, AND THEIR RELATIONSHIP WITH OTHER DISEASE THROUGH BIOINFORMATICS DATABASES
Yayıncı:
İstanbul Üniversitesi Yayınları
Raynaud’s phenomenon (RP) is a vasospastic disorder that causes substantial discomfort and dysfunction in the hands. The aim of this study is to determine the genes associated with RP and to search the molecular pathways in which this disease takes place and their connections with other diseases through the Laverne and String databases. Network enrichment was performed by identifying possible interactions between 17 RP-related genes through the STRING database. In this study, a strong interaction was detected between the ADA2, RNASEH2C, TREX1, STING1, SAMHD1, RNASEH2B, ADAR, RNASEH2A, IFIH1, RNF125, and AGXT genes from 17 genes. It was determined that SLC12A3-CLCNKB genes, COL4A1-PDGFRA genes, and ZMPSTE24-LMNA genes interacted with each other. Then, molecular pathways associated with RP were identified through the Laverne bioinformatics tool, which enables the investigation of related genes, diseases, and pathways. According to this, it can be said that platelet activation, sensory perception of itching, vasoconstriction, vasodilation, reaction to cold, reflex, platelet aggregation, blood circulation, coagulation, and fibrinolysis are involved in molecular pathways. In addition, using the Laverne bioinformatics tool, RP was found to be associated with systemic scleroderma, sclerosis, scleroderma, connective tissue diseases, systemic lupus erythematosus, ulcers, hypertensive disease, vascular diseases, arthritis, and ischemia. In conclusion, this study aimed to reveal gene-gene, gene-pathway, and disease-disease relationships using bioinformatics databases in order to understand the pathophysiology and genetic mechanisms of RP, which has two main types: primary RP, which is thought to be a genetic predisposition, and secondary RP, which is associated with various connective tissue diseases.
