High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritis

J Hum Genet. 2006;51(2):151-154. doi: 10.1007/s10038-005-0337-6. Epub 2005 Nov 26.

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.

Publication types

  • Comparative Study

MeSH terms

  • Carrier Proteins / genetics*
  • Chromosomes, Human, Pair 9 / genetics*
  • DNA Primers
  • Extracellular Matrix Proteins
  • Gene Components
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Haplotypes / genetics
  • Humans
  • Japan
  • Osteoarthritis / genetics*
  • Polymorphism, Single Nucleotide*
  • Sequence Analysis, DNA

Substances

  • ASPN protein, human
  • Carrier Proteins
  • DNA Primers
  • Extracellular Matrix Proteins