The Role of Next-Generation Sequencing in Understanding the Genetic Predispositions and Pathophysiology of Autoimmune Rheumatic Diseases
Keywords:
Next-Generation Sequencing, Autoimmune Rheumatic Diseases, Systemic Lupus Erythematosus, Rheumatoid Arthritis, Genetic Predisposition, Whole-Exome Sequencing, TranscriptomicsAbstract
Next-generation sequencing (NGS) technologies have significantly advanced our understanding of the genetic underpinnings of autoimmune rheumatic diseases (ARDs), such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and systemic sclerosis (SSc). These diseases, characterized by aberrant immune responses, often display complex genetic architectures involving multiple loci. This paper explores the utility of NGS in identifying disease-associated variants, elucidating gene expression patterns, and discovering novel biomarkers. A literature-based review of original studies highlights NGS's contribution to unraveling pathogenic mechanisms and genetic predispositions. Additionally, we present data summarizing major gene associations and discuss limitations and future research directions. The findings underscore the transformative role of NGS in precision medicine for ARDs.
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