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RNF213 p.R4810K Variant Carriers with Intracranial Arterial Stenosis Have a Low Atherosclerotic Burden

Aim: The ring finger protein 213 gene (RNF213) p.R4810K variant is a major susceptibility gene for intracranial arterial stenosis in East Asia. We hypothesized that if intracranial arterial stenosis is induced by a non-atherosclerotic mechanism similar to moyamoya disease, the patients withRNF213 p....

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Detalles Bibliográficos
Autores principales: Ohara, Mariko, Yoshimoto, Takeshi, Okazaki, Shuhei, Gon, Yasufumi, Todo, Kenichi, Sasaki, Tsutomu, Takasugi, Junji, Ohara, Nobuyuki, Ihara, Masafumi, Mochizuki, Hideki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Japan Atherosclerosis Society 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623084/
https://www.ncbi.nlm.nih.gov/pubmed/34955493
http://dx.doi.org/10.5551/jat.63379
Descripción
Sumario:Aim: The ring finger protein 213 gene (RNF213) p.R4810K variant is a major susceptibility gene for intracranial arterial stenosis in East Asia. We hypothesized that if intracranial arterial stenosis is induced by a non-atherosclerotic mechanism similar to moyamoya disease, the patients withRNF213 p.R4810K variant may have a lower cumulative atherosclerotic burden than the non-carriers. Methods: A total of 112 participants with intracranial arterial stenosis were enrolled in this multicenter cross-sectional study. We compared the prevalence of atherosclerotic risk factors and three different cardiovascular risk scores (Essen Stroke Risk Score, Framingham Risk Score, and Suita Risk Score) between theRNF213 p.R4810K variant carriers and non-carriers. Patients with moyamoya disease were excluded from the study. Results: TheRNF213 p.R4810K variant carriers were younger than the non-carriers (P<0.001). The prevalence of each atherosclerotic risk factor was not significant, but it tended to be lower in the variant carriers. The Essen Stroke Risk Score (carriers: 2.3±1.5 vs. non-carriers: 2.9±1.5,P=0.047), Framingham Risk Score (10.7±6.4 vs. 15.3±6.2,P=0.001), and Suita Risk Score (35.4±15.8 vs. 48.7±15.2,P<0.001) were significantly lower in the variant carriers. Among the three risk scores, the Suita score showed the highest predictive accuracy for the variant carriers. Conclusions: RNF213 p.R4810K variant carriers have a lower cumulative atherosclerotic burden than non-carriers among patients with intracranial arterial stenosis. New therapeutic approaches beyond the standard management of atherosclerotic risk factors are required to prevent the development of intracranial arterial stenosis.