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

Abstract

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
JournalLife
Volume12
Issue number4
DOIs
Publication statusPublished - 2022 Apr
Externally publishedYes

Keywords

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

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Biochemistry, Genetics and Molecular Biology(all)
  • Space and Planetary Science
  • Palaeontology

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