Variation in a gene that is expressed in cartilage is associated with increased risk of osteoarthritis, according to a study published online in Nature Genetics. Osteoarthritis is the most common form of arthritis, and is characterized by joint pain owing to breakdown of the cartilage that cushions the joints.
Shiro Ikegawa and colleagues carried out a genome-wide association study of Japanese individuals with and without osteoarthritis, and identified variants in a gene called DVWA that are associated with increased risk of the disease. These associations were replicated in a separate Japanese population, as well as in a Chinese group.
Although the function of DVWA is unknown, the authors show that it binds to another protein called beta-tubulin, and that this binding is weakened by the variants that are associated with elevated risk of osteoarthritis. Beta-tubulin contributes to the formation of subcellular structures called microtubules, which, among other things, are known to regulate the production of cartilage. The authors propose that DVWA might modulate this activity of beta-tubulin, which could explain its association with osteoarthritis.
Shiro Ikegawa (Center for Genomic Medicine, RIKEN, Tokyo, Japan
Abstract available online.
(C) Nature Genetics press release.
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