Genetic Variant
            <i>RNF213</i>
            c.14576G&gt;A in Various Phenotypes of Intracranial Major Artery Stenosis/Occlusion

Miyawaki, Satoru; Imai, Hideki; Shimizu, Masahiro; Yagi, Shinichi; Ono, Hideaki; Mukasa, Akitake; Nakatomi, Hirofumi; Shimizu, Tsuneo; Saito, Nobuhito

doi:10.1161/strokeaha.113.002477

Cited by 144 publications

(126 citation statements)

References 16 publications

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“…This study showed that the genotypes and allele frequencies of RNF213 p.R4810K in the general Japanese population were 1.73 and 0.87 %, respectively, which are similar to frequencies previously reported [6][7][8][9][10][11]. Geographic distribution of RNF213 p.R4810K in East Asian populations is shown in Table 3.…”

Section: Discussionsupporting

confidence: 87%

“…Recently, RNF213 has been identified as a susceptibility gene for MMD. The p.R4810K polymorphism (c.14429G [ A: rs112735431) in RNF213 has a strong association with the disease in Japanese, Korean, and Chinese MMD patients [6,7], and the frequency of p.R4810K in the general Japanese population has been estimated at 1.4-2.7 % [6][7][8][9][10][11]. However, no studies have investigated symptoms and disease histories of RNF213 p.R4810K carriers in the general Japanese population, except for one report that tested the association of RNF213 p.R4810K with blood pressure [10].…”

Section: Introductionmentioning

confidence: 99%

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Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population

Cao

Kobayashi

Morimoto

et al. 2016

Environ Health Prev Med

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Objectives RNF213 p.R4810K is a founder polymorphism that confers genetic susceptibility to moyamoya disease in East Asia. Only a few studies have investigated the symptoms and disease histories of RNF213 p.R4810K carriers in Japan. This study investigated the frequency of RNF213 p.R4810K in the general Japanese population and the health characteristics of the carriers. Methods Through a health-promotion campaign in the city of Uji, Japan, 519 subjects (120 males and 399 females) of the general Japanese population were genotyped for RNF213 p.R4810K and interviewed to determine health characteristics. Results Nine RNF213 p.R4810K heterozygous carriers (GA genotype) and no RNF213 p.R4810K homozygous carriers (AA genotype) were found among the 519 individuals. The estimates of the genotypes and allele frequencies for RNF213 p.R4810K were 1.73 and 0.87 %, respectively. There were no obvious differences in age, gender ratio, body mass index, hypertension, dyslipidemia, diabetes, kidney disease, liver disease, heart disease, or drinking or smoking habits between carriers and non-carriers. Interestingly, one patient with moyamoya disease was found among the nine RNF213 p.R4810K carriers. Conclusions This study showed the genotypes and allele frequencies of RNF213 p.R4810K in the general Japanese population to be similar to results of previous reports.

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Section: Discussionsupporting

confidence: 87%

Section: Introductionmentioning

confidence: 99%

Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population

Cao

Kobayashi

Morimoto

et al. 2016

Environ Health Prev Med

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“…It is described that conventional angiographic evaluation methods cannot easily differentiate MMD from intracranial atherosclerotic disease [15,17] and genetic analysis or high resolution MRI is useful for the differentiation [15,17]. It is well-known that Down syndrome and von Recklinghausen disease accompanies with moyamoya-like vasculopathy in the western countries.…”

Section: Discussionmentioning

confidence: 99%

Nationwide survey on quasi-moyamoya disease in Japan

et al. 2014

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Objectives -Moyamoya disease (MMD) is a unique occlusive disease of the bilateral internal carotid arteries with moyamoya vessels. A inherited or acquired disorders and conditions may present in conjunction with MMD. This condition is known as quasi-moyamoya disease. To identify the clinical features of quasi-MMD in Japan, nationwide survey was conducted.Patients and Methods-The questionnaire was directly mailed to 241 departments, which answered treating quasi-MMD patients in the primary survey. We ascertained the sex, age, family history, clinical manifestation, radiological findings, treatments, course of the disease, and daily activity of the patients.Results-A total of 114 departments replied to the questionnaire. The data of 108 patients (66 female and 42 male; female to male ratio 1.57) were registered and analyzed. Mean age was 30.6 years old with a peak of the child. Seven patients (7%) exhibited familial MMD. The initial clinical manifestation was motor weakness, followed by transient ischemic attack, headache. Their imaging study type included ischemic type in 64 patients (63.4%), bleeding type in 7 (6.9%), and normal in 27 (26.7%). Stenoocclusive lesion was seen in internal carotid artery in more than half of the patients. Development of moyamoya vessels was mild in approximately 40% of the patients. Almost all cases were accompanied with cerebral hypoperfusion. About half of them were unilateral lesion. Vascular reconstruction was employed for the approximately 60% patients. The prognosis did not changed significantly. 2Conclusion-Clinical feature of quasi-MMD were revealed in the nationwide study. In quasi-MMD, unilateral lesion is dominant, and the development of moyamoya vessels and intracranial hemorrhage are less.Full title: Nationwide survey on quasi-moyamoya disease in Japan Running title: Nationwide survey on quasi-moyamoya disease

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“…A particular subset of Japanese patients with intracranial atherosclerotic stenosis was reported to have a c.14576G>A variant in ring finger protein 213 (RNF213), which is originally known as a susceptibility gene for moyamoya disease. 4 Lifestyle may be an another major factor; extracranial carotid stenosis has become more common in Asia these days partly because of westernization of the diet and an increase in hypercholesterolemia. 5,6 A high proportion of lacunar infarction to total stroke in Asia also indicates susceptibility to intracranial vasculopathy.…”

Section: Unique Aspects Of Acute Stroke In Asiamentioning

confidence: 99%

Acute Reperfusion Therapy and Stroke Care in Asia After Successful Endovascular Trials

Toyoda

Koga

Hayakawa

et al. 2015

Stroke

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Abstract-The current status of and prospects for acute stroke care in Asia in the situation where both intravenous thrombolysis and endovascular therapies have been recognized as established strategies for acute stroke are reviewed. Of 15 million people annually having stroke worldwide, ≈9 million are Asians. The burdens of both ischemic and hemorrhagic strokes are severe in Asia. The unique features of stroke in Asia include susceptibility to intracranial atherosclerosis, high prevalence of intracerebral hemorrhage, effects of dietary and lifestyle habits, and several disorders with genetic causes. These features affect acute stroke care, such as the dosage of alteplase for thrombolysis and consideration of bleeding complications during antithrombotic therapy. Acute endovascular thrombectomy, as well as intravenous thrombolysis, is relatively prevalent in East Asia, but most of the other Asian countries need to develop their human resources and fundamental medical infrastructure for stroke care. A limitation of endovascular therapy in East Asia is the high prevalence of intracranial atherosclerosis that can cause recanalization failure and require additional angioplasty or permanent stent insertion although intracranial stenting is not an established strategy. Multinational collaboration on stroke research among Asian countries is infrequent. Asians should collaborate to perform their own thrombolytic and endovascular trials and seek the optimal strategy for stroke care specific

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Genetic Variant RNF213 c.14576G>A in Various Phenotypes of Intracranial Major Artery Stenosis/Occlusion

Cited by 144 publications

References 16 publications

Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population

Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population

Nationwide survey on quasi-moyamoya disease in Japan

Acute Reperfusion Therapy and Stroke Care in Asia After Successful Endovascular Trials

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