Identification of the gene for osteoarthritis, the most common bone and joint disease

January 10, 2005 PRESS RELEASE

The Laboratory for Bone and Joint Diseases has found a susceptibility gene for osteoarthritis. The findings are expected to lead to new treatments for and a better understanding of osteoarthritis, which affects tens of millions of people around the world.
Through association study using SNPs, the researchers identified the gene encoding an extracellular matrix protein, asporin. Asporin was increased in the cartilage of patients with osteoarthritis. They discovered that an aspartic acid (D) repeat polymorphism in asporin correlates with osteoarthritis. Individuals with the D14 allele of the asporin have double the risk of developing osteoarthritis.
Asporin binds to TGF-ß, the main growth factor for chondrocytes, inhibiting chondrogenesis. The D14 asporin suppresses TGF-ß function more strongly and hence inhibits chodrogenesis more strongly.
The research results will be published in the February 2005 issue of the U.S. science journal Nature Genetics.