Thomas Mabey, Sittisak Honsawek
Osteoarthritis is a commonly age-related degenerative joint disorder characterized by articular cartilage degradation, subchondral bone sclerosis, osteophyte formation, and synovial membrane inflammation. Various environmental, biomechanical, and genetic factors have been recognized as playing essential roles in OA development. A number of studies have endeavored to decipher the pathogenesis of osteoarthritis. In an attempt to identify the genetic markers of complex diseases such as osteoarthritis, there has been a paradigm shift away from traditional linkage mapping studies and candidate gene association studies to higher-density genome-wide association studies. This introduction to genome-wide association studies and next-generation sequencing technologies provides of these areas and then considers their relevance to in osteoarthritis. High-throughput genomic and transcriptomic methods have resulted in a paradigm shift in the way osteoarthritis is perceived and have changed the way translational research is performed. This review presents an overview of high-throughput genome wide association and next generation sequencing in osteoarthritis and discusses clinical applications of these technologies.