title: High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritis.
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.
authors.affiliation: Laboratory for Pharmacogenetics, RIKEN SNP Research Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato, Tokyo 108-8639, Japan. iidaari@src.riken.go.jp.
authors.forename: Aritoshi
authors.initials: A
authors.lastname: Iida
authors.affiliation: Laboratory for Bone and Joint Diseases, RIKEN SNP Research Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Kizawa
authors.affiliation: Laboratory for Pharmacogenetics, RIKEN SNP Research Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato, Tokyo 108-8639, Japan.|Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Nakamura
authors.affiliation: Laboratory for Bone and Joint Diseases, RIKEN SNP Research Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D017931:DNA Primers; D016326:Extracellular Matrix Proteins; D040461:Gene Components; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007564:Japan; D010003:Osteoarthritis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: C439889:ASPN protein, human; D002352:Carrier Proteins; D017931:DNA Primers; D016326:Extracellular Matrix Proteins