title: [Genetic basis for skeletal disease. Genetic factors of osteoarthritis with particular reference to skeletal dysplasia].
abstract: Osteoarthritis (OA) is a degenerative disease of articular cartilage. Etiologically, it is classified as primary (idiopathic) and secondary forms. Primary OA is a polygenic disease based on genetic and environmental factors. Identification of its genetic factor, i.e., the susceptibility genes is rapidly in progress. Skeletal dysplasia, inherent failure of formation and/or development of the skeleton, is the frequent cause of secondary OA. Many diseases that belong to skeletal dysplasia, in particular, those which have epiphyseal dysplasia frequently associate OA. Recently, identification of disease genes for skeletal dysplasias is also rapidly in progress. In this paper, I review recent advance in the study of OA susceptibility genes with focus on the relation to disease genes for skeletal dysplasia.
authors.affiliation: Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN/Japanese Skeletal Dysplasia Consortium.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D000818:Animals; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002147:Calmodulin / Q000235:genetics; D024142:Collagen Type VI / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study; D055428:Growth Differentiation Factor 5 / Q000235:genetics; D006801:Humans; D051379:Mice; D009154:Mutation; D010003:Osteoarthritis / Q000209:etiology / Q000235:genetics*; D011544:Pseudogenes
chemical_list: C531065:COL6A4P1 protein, human; D002147:Calmodulin; D024142:Collagen Type VI; C525893:GDF5 protein, human; D055428:Growth Differentiation Factor 5