Genetic analysis of Behçet’s disease using whole-exome sequencing and bioinformatics analysis in Korean patients

Background Behçet’s disease (BD) is a rare autoimmune or autoinflammatory disorder characterized by various systemic manifestations, including mucocutaneous, ocular, and musculoskeletal symptoms. The etiology of BD involves a complex interplay between genetic predisposition and environmental factors. Methods In this study, we conducted whole-exome sequencing of 20 Korean patients with BD to identify putative genetic markers and assess their association with the disease. Results We identified six genes, namely TTN, FOXO3, OR4C5, GXYLT1, ERN1 , and SIPA1L3 , harboring variants with high odds ratios and significant associations with BD. Network-based analysis revealed 48 candidate disease genes that interacted with the identified target genes. These genes were enriched in the interleukin and cytokine signaling pathways, suggesting their potential involvement in BD pathogenesis. Conclusion Our findings shed light on the genetic basis of BD and provide insights into its molecular mechanisms, paving the way for further research and targeted therapeutic interventions.