RNF213関連血管症の病態

Pathophysiology of RNF213-related Vasculopathy

Point

・RNF213 p.R4810Kバリアントは，もやもや病のみならず，一見孤発性の頭蓋内動脈狭窄・閉塞症とも関連する．

・同バリアントは頭蓋内血管のみならず，頚部血管，冠動脈，肺動脈，大動脈，腹部内臓動脈など，全身のあらゆる血管疾患と関連する．

・同バリアントは，多血管病を来す，循環器病領域における最大の発症リスクバリアントである．

　The p.R4810K variant of the RNF213 gene was identified as the founder variant of East Asian moyamoya disease. The association of the p.R4810K variant with non-moyamoya intracranial arterial stenosis has been demonstrated, and the concept of RNF213-related vasculopathy has been proposed, suggesting a continuous spectrum of moyamoya disease. Additionally, moyamoya disease is occasionally accompanied by polyvascular disease involving intracranial and neck vessels, coronary arteries（especially vasospastic angina）, pulmonary arteries, aorta, abdominal visceral arteries, and peripheral arteries, which are associated with RNF213 variants, mainly p.R4810K. The severity of vascular diseases caused by the RNF213 variant is inconsistent, and some environmental and genetic factors are believed to jointly define the phenotype. RNF213 variants confer the greatest risk of cardiovascular diseases in East Asia. Therefore, successful targeting of these variants is essential for controlling cardiovascular diseases, including stroke, in East Asian countries.