RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies

Takahiro Hiraide, Hisato Suzuki, Mizuki Momoi, Yoshiki Shinya, Keiichi Fukuda, Kenjiro Kosaki, Masaharu Kataoka

Research output: Contribution to journalComment/debatepeer-review

4 Citations (Scopus)


The ring finger protein 213 gene (RNF213) encodes a 590 kDa protein that is thought to be involved in angiogenesis. This gene was first recognized as a vasculopathy-susceptibility locus through genome-wide association studies undertaken in a Japanese population, demonstrating that heterozygotes for RNF213 p.Arg4810Lys (c.14429G>A, rs112735431) had a greatly increased risk of moyamoya disease. The association of RNF213 p.Arg4810Lys as a susceptibility variant of moyamoya disease was reproduced in Korean and Chinese individuals and, later, in Caucasians. Variants of the RNF213 gene have been linked to a number of vascular diseases such as moyamoya disease, intracranial major artery stenosis, pulmonary arterial hypertension, and peripheral pulmonary artery stenosis, and have also been associated with co-occurrent diseases and vascular disease in different organs. Based on the findings that we have reported to date, our paper proposes a new concept of “RNF213-associated vascular disease” to unify these conditions with the aim of capturing patients with multiple diseases but with a common genetic background. This concept will be highly desirable for clarifying all of the diseases in the RNF213-associated vascular disease category by means of global epidemiological investigations because of the possibility of such diseases appearing asymptomatically in some patients.

Original languageEnglish
Article number555
Issue number4
Publication statusPublished - 2022 Apr


  • RNF213
  • gene-associated vascu-lopathy
  • moyamoya disease
  • pulmonary arterial hypertension

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • General Biochemistry,Genetics and Molecular Biology
  • Space and Planetary Science
  • Palaeontology


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