<i>RNF213</i>-Associated Vascular Disease: A Concept Unifying Various Vasculopathies
The ring finger protein 213 gene (<i>RNF213</i>) 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...
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MDPI AG
2022-04-01
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| author | Takahiro Hiraide Hisato Suzuki Mizuki Momoi Yoshiki Shinya Keiichi Fukuda Kenjiro Kosaki Masaharu Kataoka |
| author_facet | Takahiro Hiraide Hisato Suzuki Mizuki Momoi Yoshiki Shinya Keiichi Fukuda Kenjiro Kosaki Masaharu Kataoka |
| author_sort | Takahiro Hiraide |
| collection | DOAJ |
| description | The ring finger protein 213 gene (<i>RNF213</i>) 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 <i>RNF213</i> p.Arg4810Lys (c.14429G>A, rs112735431) had a greatly increased risk of moyamoya disease. The association of <i>RNF213</i> p.Arg4810Lys as a susceptibility variant of moyamoya disease was reproduced in Korean and Chinese individuals and, later, in Caucasians. Variants of the <i>RNF213</i> 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 “<i>RNF213</i>-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 <i>RNF213</i>-associated vascular disease category by means of global epidemiological investigations because of the possibility of such diseases appearing asymptomatically in some patients. |
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| issn | 2075-1729 |
| language | English |
| last_indexed | 2024-03-09T13:25:42Z |
| publishDate | 2022-04-01 |
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| spelling | doaj.art-d23fcc423c9243b8b600bd8f11a9c27e2023-11-30T21:25:14ZengMDPI AGLife2075-17292022-04-0112455510.3390/life12040555<i>RNF213</i>-Associated Vascular Disease: A Concept Unifying Various VasculopathiesTakahiro Hiraide0Hisato Suzuki1Mizuki Momoi2Yoshiki Shinya3Keiichi Fukuda4Kenjiro Kosaki5Masaharu Kataoka6Department of Cardiology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-8582, JapanCenter for Medical Genetics, Keio University School of Medicine, Tokyo 160-8582, JapanDepartment of Cardiology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-8582, JapanDepartment of Cardiology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-8582, JapanDepartment of Cardiology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-8582, JapanCenter for Medical Genetics, Keio University School of Medicine, Tokyo 160-8582, JapanDepartment of Cardiology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-8582, JapanThe ring finger protein 213 gene (<i>RNF213</i>) 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 <i>RNF213</i> p.Arg4810Lys (c.14429G>A, rs112735431) had a greatly increased risk of moyamoya disease. The association of <i>RNF213</i> p.Arg4810Lys as a susceptibility variant of moyamoya disease was reproduced in Korean and Chinese individuals and, later, in Caucasians. Variants of the <i>RNF213</i> 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 “<i>RNF213</i>-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 <i>RNF213</i>-associated vascular disease category by means of global epidemiological investigations because of the possibility of such diseases appearing asymptomatically in some patients.https://www.mdpi.com/2075-1729/12/4/555<i>RNF213</i>pulmonary arterial hypertensionmoyamoya diseasegene-associated vasculopathy |
| spellingShingle | Takahiro Hiraide Hisato Suzuki Mizuki Momoi Yoshiki Shinya Keiichi Fukuda Kenjiro Kosaki Masaharu Kataoka <i>RNF213</i>-Associated Vascular Disease: A Concept Unifying Various Vasculopathies Life <i>RNF213</i> pulmonary arterial hypertension moyamoya disease gene-associated vasculopathy |
| title | <i>RNF213</i>-Associated Vascular Disease: A Concept Unifying Various Vasculopathies |
| title_full | <i>RNF213</i>-Associated Vascular Disease: A Concept Unifying Various Vasculopathies |
| title_fullStr | <i>RNF213</i>-Associated Vascular Disease: A Concept Unifying Various Vasculopathies |
| title_full_unstemmed | <i>RNF213</i>-Associated Vascular Disease: A Concept Unifying Various Vasculopathies |
| title_short | <i>RNF213</i>-Associated Vascular Disease: A Concept Unifying Various Vasculopathies |
| title_sort | i rnf213 i associated vascular disease a concept unifying various vasculopathies |
| topic | <i>RNF213</i> pulmonary arterial hypertension moyamoya disease gene-associated vasculopathy |
| url | https://www.mdpi.com/2075-1729/12/4/555 |
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