Until very recently the field of genetics of musculoskeletal diseases had few successes to report, all essentially limited to monogenic conditions or candidate gene findings mostly of strongly associated genes lying within the MHC. Amongst these success stories have been important contributions to our understanding of conditions such as rheumatoid arthritis and ankylosing spondylitis. However the field stalled on the identification of the polygenes that contribute the majority of the genetic risk in a wide variety of common musculoskeletal diseases. This has led to considerable criticism of the field, with many observers, often critical of the financial costs of this research, arguing that hypothesis-free genetic approaches are fatally flawed and wasteful.
Over the past 5 years, however, an increasing run of genes have been identified using a variety of approaches for conditions including rheumatoid arthritis, ankylosing spondylitis, chondrocalcinosis and osteoporosis. The successful methods that have been applied will be discussed along with illustrations of how these findings have impacted on our understanding of disease pathogenesis.