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Titolo:
Identification of sequence polymorphisms of the COMP (cartilage oligomericmatrix protein) gene and association study in osteoarthrosis of the knee and hip joints
Autore:
Mabuchi, A; Ikeda, T; Fukuda, A; Koshizuka, Y; Hiraoka, H; Miyoshi, K; Haga, N; Kawaguchi, H; Kawakami, A; Yamamoto, S; Takatori, Y; Nakamura, K; Ikegawa, S;
Indirizzi:
Univ Tokyo, Inst Med Sci, Lab Bone & Joint Dis, SNP Res Ctr,RIKEN Inst Phys & Chem Res,Minato Ku, Tokyo 1088639, Japan Univ Tokyo Tokyo Japan 1088639 Chem Res,Minato Ku, Tokyo 1088639, Japan Univ Tokyo, Dept Orthopaed Surg, Tokyo, Japan Univ Tokyo Tokyo JapanUniv Tokyo, Dept Orthopaed Surg, Tokyo, Japan Yokohama Rosai Hosp, Dept Orthoped, Yokohama, Kanagawa, Japan Yokohama Rosai Hosp Yokohama Kanagawa Japan d, Yokohama, Kanagawa, Japan Shizuoka Childrens Hosp, Dept Pediat Orthoped, Shizuoka, Japan Shizuoka Childrens Hosp Shizuoka Japan Pediat Orthoped, Shizuoka, Japan Tokyo Teishin Hosp, Dept Orthoped, Tokyo, Japan Tokyo Teishin Hosp TokyoJapan eishin Hosp, Dept Orthoped, Tokyo, Japan Tokyo Metropolitan Geriatr Hosp, Dept Orthoped Surg, Tokyo 173, Japan Tokyo Metropolitan Geriatr Hosp Tokyo Japan 173 d Surg, Tokyo 173, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 8, volume: 46, anno: 2001,
pagine: 456 - 462
SICI:
1434-5161(2001)46:8<456:IOSPOT>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
MULTIPLE EPIPHYSEAL DYSPLASIA; SUGGESTIVE LINKAGE; PSEUDOACHONDROPLASIA; MUTATIONS; POPULATION; PRODUCT; WOMEN; TWIN;
Keywords:
polymorphism; SNP; COMP; association study; haplotype; osteoarthrosis; knee; hip;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Ikegawa, S Univ Tokyo, Inst Med Sci, Lab Bone & Joint Dis, SNP Res Ctr,RIKEN Inst Phys & Chem Res,Minato Ku, 4-6-1 Shirokanedai, Tokyo 1088639, JapanUniv Tokyo 4-6-1 Shirokanedai Tokyo Japan 1088639 88639, Japan
Citazione:
A. Mabuchi et al., "Identification of sequence polymorphisms of the COMP (cartilage oligomericmatrix protein) gene and association study in osteoarthrosis of the knee and hip joints", J HUM GENET, 46(8), 2001, pp. 456-462

Abstract

Osteoarthrosis (OA) is a common cause of musculoskeletal disability characterized by late-onset degeneration of articular cartilage. Although severalcandidate 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 gone 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 00:09:29