title: Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints.
abstract: Osteoarthrosis (OA) is a common cause of musculoskeletal disability characterized by late-onset degeneration of articular cartilage. Although several candidate genes have been reported, susceptibility genes for OA remain to be determined. Hereditary osteochondral dysplasias produce severe, early-onset OA and hence are models for common idiopathic OA. Among them are pseudoachondroplasia and multiple epiphyseal dysplasia, both of which are caused by mutations in the cartilage oligomeric matrix protein (COMP) gene. Therefore, COMP may be a susceptibility gene for OA. We screened for polymorphisms by direct sequencing of all exons of the COMP gene with their flanking intron sequences and the promoter region. We identified 16 polymorphisms, of which 12 were novel. Using six polymorphisms spanning the entire COMP gene, we examined the association of COMP in Japanese patients with OA of the knee and hip joints. Genotype and allele frequencies of the polymorphisms were not significantly different between OA and control groups, and there was no significant difference in haplotypes. These results do not support an association between COMP and OA in the Japanese population.
authors.affiliation: Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN (The Institute of Physical and Chemical Research), University of Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Mabuchi
authors.forename: T
authors.initials: T
authors.lastname: Ikeda
authors.forename: A
authors.initials: A
authors.lastname: Fukuda
authors.forename: Y
authors.initials: Y
authors.lastname: Koshizuka
authors.forename: H
authors.initials: H
authors.lastname: Hiraoka
authors.forename: K
authors.initials: K
authors.lastname: Miyoshi
authors.forename: N
authors.initials: N
authors.lastname: Haga
authors.forename: H
authors.initials: H
authors.lastname: Kawaguchi
authors.forename: A
authors.initials: A
authors.lastname: Kawakami
authors.forename: S
authors.initials: S
authors.lastname: Yamamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Takatori
authors.forename: K
authors.initials: K
authors.lastname: Nakamura
authors.forename: S
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D002356:Cartilage / Q000737:chemistry*; D064236:Cartilage Oligomeric Matrix Protein; D003430:Cross-Sectional Studies; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D064235:Matrilin Proteins; D008875:Middle Aged; D015207:Osteoarthritis, Hip; D020370:Osteoarthritis, Knee / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017421:Sequence Analysis
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human