GENETIC AND MOLECULAR BIOMARKERS OF AUTOIMMUNE DISEASES: FROM IMMUNE DYSREGULATION TO PERSONALIZED THERAPY

Abstract

Autoimmune diseases are heterogeneous disorders caused by the interaction of inherited susceptibility, epigenetic remodeling, environmental exposure, and dysregulated innate and adaptive immunity. The rapid development of genome-wide association studies, next-generation sequencing, single-cell technologies, and high-throughput proteomics has expanded the spectrum of candidate biomarkers that can be used for risk prediction, early diagnosis, assessment of disease activity, prognosis, and treatment selection. This narrative review summarizes the clinical significance of HLA alleles, non-HLA susceptibility genes, polygenic risk scores, DNA methylation patterns, non-coding RNAs, autoantibodies, cytokines, complement components, and multi-omics signatures in major autoimmune diseases. Particular attention is given to the translation of biomarkers into personalized therapeutic strategies, including patient stratification for biologic agents, Janus kinase inhibitors, B-cell-targeted therapy, and cellular approaches. The main limitations remain population heterogeneity, insufficient external validation, pre-analytical variability, and the lack of standardized multi-marker panels. Integration of genetic, epigenetic, transcriptomic, proteomic, and clinical data is the most promising route toward reproducible biomarker systems and precision medicine in autoimmunity.