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首页> 外文期刊>Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association >RNF213 p.R4810K Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease
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RNF213 p.R4810K Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease

机译：RNF213 P.R4810K患者患者亲属的变体和颅内动脉狭窄或闭塞术

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Background: This study aimed to determine the effectiveness of genetic testing for the p.R4810K variant (rs112735431) of the Mysterin/RNF213 gene, which is associated with moyamoya disease and other intracranial vascular diseases, in the family members of patients with moyamoya disease. Methods: We performed genotyping of the RNF213 p.R4810K polymorphism and magnetic resonance angiography on 59 relatives of 18 index patients with moyamoya disease. Nineteen individuals had follow-up magnetic resonance angiography with a mean follow-up period of 7.2 years. Results: Six of the 34 individuals with the GA genotype (heterozygotes for p. R4810K) showed intracranial steno-occlusive lesions in the magnetic resonance angiography, whereas none of the 25 individuals with the GG genotype (wild type) showed any abnormalities. Follow-up magnetic resonance angiography revealed de novo lesions in 2 and disease progression in 1 of the 11 individuals with the GA genotype, despite none of the 8 individuals with the GG genotype showing any changes. Accordingly, 8 individuals had steno-occlusive lesions at the last follow-up, and all had the p. R4810K risk variant. The prevalence of steno-occlusive intracranial arterial diseases in family members with the p. R4810K variant was 23.5% (95% confidence interval: 9.27%-37.78%), which was significantly higher than in those without the variant (0%, P = .0160). Conclusions: Genotyping of the p.R4810K missense variant is useful for identifying individuals with an elevated risk for steno-occlusive intracranial arterial diseases in the family members of patients with moyamoya disease.
机译：背景技术：本研究旨在确定Mysterin / RNF213基因的P.R4810K变体（RS112735431）的遗传检测的有效性，其与Moyamoya疾病和其他颅内血管疾病有关的Moyamoya疾病的家庭成员。方法：在Moyamoya疾病的18名指标患者的59个亲属上进行了RNF213 P.R4810K多态性和磁共振血管造影的基因分型。 19个体具有后续磁共振血管造影，平均随访时间为7.2岁。结果：具有GA基因型的34个个体中的六种（R4810K的杂合子）显示磁共振血管造影中的颅内闭塞病变，而25个具有GG基因型（野生型）的个体中没有出现任何异常。随访磁共振血管造影显示出在11个个体中的2种和疾病进展中揭示了疾病进展，尽管8个体没有出现任何变化的GG基因型。因此，在最后一次随访中，8个个体具有狭窄的闭塞病变，所有这些都有p。 R4810K风险变量。患有P的家庭成员闭塞性颅内动脉疾病的患病率。 R4810K变体为23.5％（95％置信区间：9.27％-37.78％），显着高于变体的那些（0％，P = .0160）。结论：P.R4810K的基因分型对Moyamoya病患者家庭成员的患者闭塞性颅内动脉疾病的风险升高，是有用的。

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