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RNF213 R4810K Variant in Suspected Unilateral Moyamoya Disease Predicts Contralateral Progression

 Taedong Ok  ;  Yo Han Jung  ;  Jinkwon Kim  ;  Sang Kyu Park  ;  Goeun Park  ;  Sujee Lee  ;  Kyung-Yul Lee 
 JOURNAL OF THE AMERICAN HEART ASSOCIATION, Vol.11(15) : e025676, 2022-08 
Journal Title
Issue Date
Adenosine Triphosphatases* / genetics ; Genetic Predisposition to Disease ; Humans ; Moyamoya Disease* / diagnostic imaging ; Moyamoya Disease* / genetics ; Retrospective Studies ; Transcription Factors / genetics ; Ubiquitin-Protein Ligases* / genetics
RNF213 ; intracranial stenosis ; moyamoya disease ; polymorphism ; progression
Background Early-stage unilateral moyamoya disease (MMD) is difficult to discriminate from isolated intracranial atherosclerotic stenosis, and identification of contralateral progression may aid in the diagnosis of MMD. The RNF213 (ring finger protein 213) R4810K variant is a strong genetic susceptibility factor for MMD; however, the role of contralateral progression in unilateral MMD is unknown. Methods and Results Patients who had undergone RNF213 R4810K genotyping with suspected unilateral MMD between January 2017 and August 2021 from 2 tertiary university hospitals were retrospectively reviewed. We compared the clinical features and radiographic outcomes of patients with and without this variant. The risk factors of contralateral progression in patients with suspected unilateral MMD were evaluated. The RNF213 R4810K variant was observed in 72 of 123 patients with suspected unilateral MMD, all of which were heterozygous. The allele frequency of the R4810K variant was significantly higher in the suspected unilateral MMD group compared with the historical control group (29.3% versus 1.2%; P<0.0001). Family history of MMD was significantly more common in patients with the variant than in those without (17% versus 4%; P=0.003). Eleven of 72 patients with the variant developed contralateral progression, whereas only 1 of 51 patients without the variant developed contralateral progression during a median follow-up period of 28 months (log-rank test; P=0.03). The presence of the RNF213 R4810K variant significantly correlated with contralateral progression (adjusted odds ratio, 6.39 [95% CI, 1.11-36.63]; P=0.04). Conclusions Contralateral progression is more likely to occur in patients with suspected unilateral MMD with the RNF213 R4810K variant than in those without the variant. However, because our study used a small sample size, this finding should be carefully interpreted and requires further studies with more patients and longer follow-up periods.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Jinkwon(김진권) ORCID logo https://orcid.org/0000-0003-0156-9736
Park, Goeun(박고은)
Park, Sang Kyu(박상규)
Ok, Taedong(옥태동)
Lee, Kyung Yul(이경열) ORCID logo https://orcid.org/0000-0001-5585-7739
Jung, Yo Han(정요한) ORCID logo https://orcid.org/0000-0002-3048-4718
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