Research press release


Nature Genetics

Genetic risk factor for osteoarthritis

軟骨で発現する1つの遺伝子の多型が、変形性関節症の高い発症リスクと関連していることを報告する論文が、Nature Genetics(電子版)に掲載される。変形性関節症は、最も一般的なタイプの関節炎で、関節に加わる衝撃を和らげる軟骨が破壊されることによる関節痛を特徴とする。



Variation in a gene that is expressed in cartilage is associated with increased risk of osteoarthritis, according to a study published online this week 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.

doi: 10.1038/ng.176

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