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Association Analysis of Single Nucleotide Polymorphisms in Cartilage‐Specific Collagen Genes With Knee and Hip Osteoarthritis in the Japanese Population
Author(s) -
Ikeda Toshiyuki,
Mabuchi Akihiko,
Fukuda Akira,
Kawakami Akira,
Yamada Ryo,
Yamamoto Seizo,
Miyoshi Kota,
Haga Nobuhiko,
Hiraoka Hisatada,
Takatori Yoshio,
Kawaguchi Hiroshi,
Nakamura Kozo,
Ikegawa Shiro
Publication year - 2002
Publication title -
journal of bone and mineral research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.882
H-Index - 241
eISSN - 1523-4681
pISSN - 0884-0431
DOI - 10.1359/jbmr.2002.17.7.1290
Subject(s) - osteoarthritis , single nucleotide polymorphism , cartilage , genetics , gene , population , medicine , biology , genotype , pathology , anatomy , alternative medicine , environmental health
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.