High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritis |
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Authors: | Aritoshi Iida Hideki Kizawa Yusuke Nakamura Shiro Ikegawa |
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Affiliation: | (1) Laboratory for Pharmacogenetics, RIKEN SNP Research Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato, Tokyo 108-8639, Japan;(2) Laboratory for Bone and Joint Diseases, RIKEN SNP Research Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan;(3) Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan |
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Abstract: | Osteoarthritis (OA) is a very common bone and joint disease characterized by breakdown of cartilage in the joint. We recently found that an aspartic-acid repeat polymorphism of the asporin gene (ASPN) on chromosome 9 is associated with susceptibility to OA in Japanese. We provide here a high-resolution single nucleotide polymorphism (SNP) map within a 33.4-kb genomic region containing ASPN. A total of 19 SNPs were isolated from the region by systematic screening using 48 Japanese patients with OA: 7 SNPs in the 5 flanking region, 8 in introns, and 4 in the 3 untranslated region. Nine SNPs were novel. This high-resolution SNP map will be a useful resource for analyzing genes associated with OA and other bone and joint diseases. |
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Keywords: | Asporin Osteoarthritis Single nucleotide polymorphism High-resolution SNP map Association study |
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