title: [Genomic study of susceptibility genes for common bone and joint diseases].
abstract: Common bone and joint diseases like osteoarthritis and lumbar disc disease are polygenic diseases caused by genetic and environment factors. We are challenging susceptibility genes for common bone and joint diseases using association study as a tool. By a combination of candidate-gene approach and whole-genome screen, we have succeeded in identification of five genes for osteoarthritis and for lumbar disc diseases, respectively. In the present paper, I mention the main genes among them, ASPN, GDF5 and DVWA for osteoarthritis, and TBSP2 and MMP9 for lumbar disc disease. Identification of the new genes will open a new window for the clarification of pathomechanism of the diseases and their treatment.
authors.affiliation: Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D001847:Bone Diseases / Q000235:genetics*; D024142:Collagen Type VI; D016326:Extracellular Matrix Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055428:Growth Differentiation Factor 5 / Q000235:genetics; D006801:Humans; D007592:Joint Diseases / Q000235:genetics*; D020780:Matrix Metalloproteinase 9 / Q000235:genetics; D011506:Proteins / Q000235:genetics; D011544:Pseudogenes; D019699:Thrombospondins / Q000235:genetics
chemical_list: C439889:ASPN protein, human; C531065:COL6A4P1 protein, human; D024142:Collagen Type VI; D016326:Extracellular Matrix Proteins; C525893:GDF5 protein, human; D055428:Growth Differentiation Factor 5; D011506:Proteins; D019699:Thrombospondins; D020780:Matrix Metalloproteinase 9