Abstract
Common musculoskeletal disorders in adults are mostly degenerative and polygenic diseases influenced by both genetic and environmental factors.Hence, the identification of susceptibility genes may provide clues to their etiology and pathogenesis and this genetic study is demanded to gain better insight into advanced diagnosis and treatment for these disorders. Osteoarthritis (OA) of hip and knee joints, degenerative disc disease (DDD), and developmental dysplasia of the hip (DDH) are common musculoskeletal disorders in adults, and numerous genetic studies including genome-wide association studies have revealed several interesting predisposing candidate genes for these disorders along witha genetic overlap amongthose to date. However, only a few genes have far been associated with the above disorders at genome-wide significance levels. Accordingly, we have to discover additional susceptibility alleles for these disorders. This brief report describes the presence and future for geneticstudies of common musculoskeletal disorders in adults, especially focused on OA, DDH, and DDD, of which the genetics have been actively studied through advanced technique such as whole-genome sequencing recently.
Highlights
Background and SignificanceTechnical evolutions in genetic studies in the past few years have substantially enhancedthe detection of the genetic alterations and our understandingof the genetic predisposition as well as the pathogenesis in musculoskeletal disorders. recent advances have not greatly affected our treatment options to date, those will be the cornerstone of better counseling, diagnostic tests and treatment options for patients in the future.The genes responsible for Mendelian inherited orthopedic conditions, including many types of skeletal dysplasia andosteogenesis imperfect are already known
More common, conditions such as osteoarthritis (OA), degenerative disc disease (DDD),developmental dysplasia of the hip (DDH), andosteoporosis that have a more complex inheritance pattern, the identification of genes involved in their pathogenesis is an ongoing project
We describe the presence and future of genetics of common musculoskeletal disorders in adults, especially focused on OA, DDH, and DDD of which the genetics have been actively studied through advanced technique such as whole-genome sequencing recently
Summary
Technical evolutions in genetic studies in the past few years have substantially enhancedthe detection of the genetic alterations and our understandingof the genetic predisposition as well as the pathogenesis in musculoskeletal disorders. recent advances have not greatly affected our treatment options to date, those will be the cornerstone of better counseling, diagnostic tests and treatment options for patients in the future. More common, conditions such as osteoarthritis (OA), degenerative disc disease (DDD),developmental dysplasia of the hip (DDH), andosteoporosis that have a more complex inheritance pattern, the identification of genes involved in their pathogenesis is an ongoing project. These musculoskeletal disorders pose major public health problems worldwide and the basis of a series of disabilities, especially in the elderly[1,2]. Genetic study is essential to gain better insight into advanced diagnosis and treatment for these disorders in the future. We describe the presence and future of genetics of common musculoskeletal disorders in adults, especially focused on OA, DDH, and DDD of which the genetics have been actively studied through advanced technique such as whole-genome sequencing recently
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