The Genetics and Functional Genomics of Osteoarthritis

作者：Ana Luiza Arruda, Georgia Katsoula, Shibo Chen, Ene Reimann, Peter Kreitmaier, Eleftheria Zeggini · 发表于：Annual Review of Genomics and Human Genetics · 年份：2024 · DOI：10.1146/annurev-genom-010423-095636 · 被引用次数：25 · 研究领域：Osteoarthritis Treatment and Mechanisms、Inflammatory mediators and NSAID effects、Cytokine Signaling Pathways and Interactions

Osteoarthritis is the most prevalent whole-joint degenerative disorder, and is characterized by the degradation of articular cartilage and the underlying bone structures. Almost 600 million people are affected by osteoarthritis worldwide. No curative treatments are available, and management strategies focus mostly on pain relief. Here, we provide a comprehensive overview of the available human genetic and functional genomics studies for osteoarthritis to date and delineate how these studies have helped shed light on disease etiopathology. We highlight genetic discoveries from genome-wide association studies and provide a detailed overview of molecular-level investigations in osteoarthritis tissues, including methylation-, transcriptomics-, and proteomics-level analyses. We review how functional genomics data from different molecular levels have helped to prioritize effector genes that can be used as drug targets or drug-repurposing opportunities. Finally, we discuss future directions with the potential to drive a step change in osteoarthritis research.