title: Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population.
abstract: Osteoarthritis (OA) is one of the most common diseases in the elderly. Although its pathophysiology is complex and its molecular basis remains to be determined, much evidence suggests that OA has strong genetic determinants. To search for susceptibility loci of OA, we selected seven candidate genes encoding cartilage-specific collagens (type II, IX, X, and XI collagens) and performed association analysis for OA using single nucleotide polymorphisms (SNPs) in the coding region of these genes. Four hundred seventeen OA samples and 280 control samples were collected from the Japanese population, and 12 SNPs were genotyped. Our studies have identified two susceptibility loci of OA: COL2A1 and COL9A3. An SNP in COL9A3 showed significant association with knee OA (p = 0.002, odds ratio [OR] = 1.48). Haplotype analysis showed significant association between a specific haplotype of COL2A1 and hip OA (p = 0.024; OR = 1.30). Further analysis of these two genes will shed light on the molecular mechanisms of OA.
authors.affiliation: Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN (The Institute of Physical and Chemical Research), Tokyo, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Ikeda
authors.forename: Akihiko
authors.initials: A
authors.lastname: Mabuchi
authors.forename: Akira
authors.initials: A
authors.lastname: Fukuda
authors.forename: Akira
authors.initials: A
authors.lastname: Kawakami
authors.forename: Yamada
authors.initials: Y
authors.lastname: Ryo
authors.forename: Seizo
authors.initials: S
authors.lastname: Yamamoto
authors.forename: Kota
authors.initials: K
authors.lastname: Miyoshi
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Haga
authors.forename: Hisatada
authors.initials: H
authors.lastname: Hiraoka
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Takatori
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kawaguchi
authors.forename: Kozo
authors.initials: K
authors.lastname: Nakamura
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D000368:Aged; D002358:Cartilage, Articular; D024043:Collagen Type II / Q000235:genetics*; D024081:Collagen Type IX / Q000235:genetics*; D024121:Collagen Type X / Q000235:genetics*; D024161:Collagen Type XI / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D015207:Osteoarthritis, Hip / Q000235:genetics*; D020370:Osteoarthritis, Knee / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D024043:Collagen Type II; D024081:Collagen Type IX; D024121:Collagen Type X; D024161:Collagen Type XI