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MINI REVIEW article

Front. Immunol.

Sec. Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders

Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1624263

This article is part of the Research TopicUnderstanding eQTLs and their Association with SpondyloarthropathiesView all articles

Decoding eQTLs: Unraveling Their Role in Spondyloarthropathies Pathogenesis and Potential Therapeutics

Provisionally accepted
Nabaa Ihsan AwadhNabaa Ihsan Awadh1*Asal Adnan RidhaAsal Adnan Ridha1Marwah Muayad YounusMarwah Muayad Younus2Yasameen Abbas HumadiYasameen Abbas Humadi3Faiq I. GorialFaiq I. Gorial1Khalid Burhan KhalidKhalid Burhan Khalid4Yousif Alaa RasoolYousif Alaa Rasool1
  • 1College of Medicine, University of Baghdad, Baghdad, Iraq
  • 2Ibn Sina Medical College, Baghdad, Iraq
  • 3Department of Internal Medicine- Alnahrain University- College of Medicine, Baghdad, Iraq
  • 4Faculty of Dentistry, Dijlah University College, Baghdad, Baghdad, Iraq

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Expression quantitative trait loci (eQTLs) represent genetic variants that influence gene expression, providing insights into the mechanisms linking genetic predisposition to complex diseases, including spondyloarthropathies (SpAs). SpAs, encompassing ankylosing spondylitis, psoriatic arthritis, reactive arthritis, and enteropathic arthritis, are related heterogeneous conditions with strong genetic components, particularly in HLA-B27 and non-HLA loci, but phenotypically distinct disorders.Recent advances in genome-wide association studies (GWAS) and transcriptomic studies have shown the potential of such eQTLs to provide insights into the disease biology, delineate potential drug targets, and enable precision medicine. This mini-review provides a comprehensive overview of eQTLs-discovery, definition, and functional implication into eQTLs gene regulation. We review their role in SpA pathogenesis, controversy and methodological issues in eQTL studies, literature gaps, and directions for the future. By combining genetic, immunological, and computational information, we aim to present an unbiased perspective on the role of eQTLs in advancing SpA research and treatment.

Keywords: eQTLs, Spondyloarthropathies, Pathogenesis, Therapeutics, genetic regulation, Inflammation

Received: 07 May 2025; Accepted: 11 Aug 2025.

Copyright: © 2025 Awadh, Ridha, Younus, Humadi, Gorial, Khalid and Rasool. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Nabaa Ihsan Awadh, College of Medicine, University of Baghdad, Baghdad, Iraq

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

Supplementary Material