Expression quantitative trait loci (eQTLs) represent genetic variants that influence\r\ngene expression, providing insights into the mechanisms linking genetic\r\npredisposition to complex diseases, including spondyloarthropathies (SpAs).\r\nSpAs, encompassing ankylosing spondylitis, psoriatic arthritis, reactive arthritis,\r\nand enteropathic arthritis, are related heterogeneous conditions with strong\r\ngenetic components, particularly in HLA-B27 and non-HLA loci, but\r\nphenotypically distinct disorders. Recent advances in genome-wide association\r\nstudies (GWAS) and transcriptomic studies have shown the potential of such\r\neQTLs to provide insights into the disease biology, delineate potential drug\r\ntargets, and enable precision medicine. This mini-review provides a\r\ncomprehensive overview of eQTLs—discovery, definition, and functional\r\nimplication into eQTLs gene regulation. We review their role in SpA\r\npathogenesis, controversy and methodological issues in eQTL studies,\r\nliterature gaps, and directions for the future. By combining genetic,\r\nimmunological, and computational information, we aim to present an unbiased\r\nperspective on the role of eQTLs in advancing SpA research and treatment.
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27/08/2025
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