Vascular Diseases Attributable to RNF213 Other Than Moyamoya Disease

Abstract

Ring finger protein 213 (RNF213) has been reported to have association with various vascular diseases other than moyamoya disease (MMD). MMD-associated genetic variant RNF213 c.14576G>A had association with various degrees of intracranial major artery stenotic lesions including intracranial atherosclerosis (ICAS). RNF213 c.14576G>A could be the candidate genetic variant for this prevalence of ICAS in East Asian population. The presence of RNF213 c.14576G>A may associate with high blood pressure. Thus, RNF213 c.14576G>A could be a robust genetic risk indicator for ischemic stroke in East Asian population. RNF213 c.14576G>A may also have some association with quasi-MMD in East Asian population. Associations of RNF213 with fibromuscular dysplasia and intracranial aneurysm have also been reported in European population. These results indicate that RNF213 has a fundamental role in the pathophysiology of various vascular diseases.