It is our consensus that elucidation of the genetic factors involved in OPLL is a key issue for fully understanding the pathophysiology of OPLL in the search for future therapeutic methods. For a number of years efforts have been made to identify genes responsible for OPLL. Extracellular matrix genes such as COL11A2 and COL6A1 were identified as conveying genetic susceptibility, and involvement of NPPS was reported as well. Thus far, however, the results have not been consistent. Evidently, a much larger association study is required to clarify this issue. Also genetic studies in populations other than the Japanese is needed to investigate etiological identity or differences in distinct populations. Understanding the role of genetic factors in the etiology of OPLL allows more precise definition of nongenetic factors, such as environmental and lifestyle- oriented factors, which may help improve the patients’ status.
KeywordsGenetic Susceptibility Posterior Longitudinal Ligament Diffuse Idiopathic Skeletal Hyperostosis Allelic Association Ectopic Bone Formation
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