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Titolo:
Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis
Autore:
Ikeda, T; Mabuchi, A; Fukuda, A; Hiraoka, H; Kawakami, A; Yamamoto, S; Machida, H; Takatori, Y; Kawaguchi, H; 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 Tokyo Teishin Hosp, Dept Orthoped Surg, Tokyo, Japan Tokyo Teishin Hosp Tokyo Japan n Hosp, Dept Orthoped Surg, 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: 9, volume: 46, anno: 2001,
pagine: 538 - 543
SICI:
1434-5161(2001)46:9<538:IOSPIT>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
RADIOGRAPHIC OSTEOARTHRITIS; POPULATION; AGGREGATION; CARTILAGE; DYSPLASIA; ROTTERDAM; AGGRECAN; GENETICS; CLONING;
Keywords:
association analysis; osteoarthritis; polymorphisms; sulfation; haplotype analysis; PAPSS2; (3 '-phosphoadenosine 5 '-phosphosulfate synthase 2); SLC26A2 (solute carrier family 26, member 2);
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
27
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:
T. Ikeda et al., "Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis", J HUM GENET, 46(9), 2001, pp. 538-543

Abstract

Osteoarthritis (OA) is one of the most common musculoskeletal disorders and is characterized by degeneration of articular cartilage. Sulfation of extracellular matrix proteins in articular cartilage is an important step in maintaining normal cartilage metabolism. Two sulfation-related genes have been reported as the causal genes of severe chondrodysplasias: mutations in PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) cause spondylo-epimetaphyseal dysplasia (SEMD), and mutations in SLC26A2 (solute carrier family 26, member 2) cause diastrophic dysplasia. Given their critical roles incartilage metabolism and the severe phenotypes that result from mutations in these genes, we examined PAPSS2 and SLC26A2 as candidate susceptibility loci for OA. We identified sequence polymorphisms in the coding and core promoter regions of these genes and analyzed their potential association withknee OA within the Japanese population. Ten sequence polymorphisms were detected in PAPSS2 and five in SLC26A2. An association analysis showed suggestive association of one minor polymorphism in the promoter region of SLC26A2. This 4-bp adenine deletion allele, del4A, was over-represented in knee OA (P = 0.043, odds ratio = 3.43) and is thought to confer a minor susceptibility to knee OA within the Japanese population. Haplotype analysis showed no evidence of association with the two genes, however, excluding them as major susceptibility loci for knee OA.

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Documento generato il 09/04/20 alle ore 10:49:59