2024 Volume 41 Issue 3 Pages 288-292
The p.R4810K variant in the RNF213 gene was identified as the founder variant in East Asian moyamoya disease. The association of this variant with non–moyamoya intracranial arterial stenosis was also demonstrated, and the disease concept of RNF213–related vasculopathy was proposed, suggesting a continuous spectrum with moyamoya disease. In addition, moyamoya disease is occasionally accompanied by polyvascular disease involving not only intracranial vessels but also neck vessels, coronary arteries (especially vasospastic angina), pulmonary arteries, aorta, abdominal visceral arteries and peripheral arteries, which have been found to be associated with RNF213 variants, mainly the p.R4810K. The severity of vascular disease caused by the RNF213 variant is not uniform, and some environmental and genetic factors are thought to jointly define the phenotype. The RNF213 gene is the largest risk for cardiovascular diseases in East Asia, and successful targeting on the RNF213 gene is essential for the control of cardiovascular diseases including stroke in East Asian countries.
