Determination of molecular pathways and gene ontology of genes associated with Raynaud’s phenomenon

Abstract Objectives Raynaud’s phenomenon (RF) is a disease that causes discoloration of the fingers. The purpose of this study is to identify the molecular pathways in which genes related to RP illness are involved, as well as uncover the biological processes and molecular functions connected with those genes via the use of gene ontology (GO) analysis. Methods Genes associated with RP in the MalaCards Human Diseases database were detected. Twenty genes obtained from the MalaCards Human Diseases database were included in the study for gene ontology analysis via the STRING database. Accordingly, possible interactions between 20 genes were determined through STRING and network enrichment was performed. Results A significant enrichment by gene ontology enrichment analysis was detected in a subset of genes involved in biological processes including cellular response to luteinizing hormone stimulus, negative regulation of fibrinolysis, negative regulation of smooth muscle cell apoptotic process, plasminogen activation, cellular response to follicle-stimulating hormone stimulus. The assay for molecular function determined enrichment of a subset of genes in chemoattractant activity, growth factor activity, heparin binding, sulfur compound binding, growth factor receptor binding. Through the use of KEGG pathways, we were able to identify many molecular processes that contribute to RP, including the AGE-RAGE signaling pathway in diabetic complications, complement and coagulation cascades, fluid shear stress, atherosclerosis. Conclusions Some individuals may have a genetic predisposition to the onset of Raynaud’s phenomenon. Our data showed that it is associated with genes involved in vascular damage and fibrosis, especially in RP. Therefore, we can include RP disease in the group of vascular diseases.