Validation and Extension Study Exploring the Role of RNF213 p.R4810K in 2,877 Chinese Moyamoya Disease Patients

Validation and Extension Study Exploring the Role of RNF213 p.R4810K in 2,877 Chinese Moyamoya Disease Patients

To validate, update, and extend the role of RNF213 p.R4810K (G>A) for predicting the phenotype of moyamoya disease (MMD) patients and explore the different effects on pediatric and adult groups. A total of 2,877 patients conducted from 2004 to 2018 were included. Review Manage 5.3 and SPSS 20.0 w...

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Veröffentlicht in:Journal of stroke and cerebrovascular diseases 2021-11, Vol.30 (11), p.106071-106071, Article 106071
Hauptverfasser: Wang, Yue, Zhang, Zhengshan, Wang, Xiaotong, Zou, Zhengxing, Ta, Na, Hao, Fangbin, Yang, Yuetian, Li, Desheng, Liang, Man, Han, Cong, Bao, Xiangyang, Ou, Lanxin, Wang, Hui, Yang, Zhibin, Yang, Rimiao, Zeng, Fanxin, Shang, Mengke, Nie, Fangfang, Liu, Wanyang, Duan, Lian
Format: Artikel
Sprache:eng
Schlagworte:
Adenosine Triphosphatases - genetics
Adult
Child
China
Female
Genetic Predisposition to Disease
Humans
Male
Moyamoya disease
Moyamoya Disease - genetics
Phenotype
Prediction
Retrospective Studies
RNF213 p.R4810K
Ubiquitin-Protein Ligases - genetics
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Zusammenfassung:To validate, update, and extend the role of RNF213 p.R4810K (G>A) for predicting the phenotype of moyamoya disease (MMD) patients and explore the different effects on pediatric and adult groups. A total of 2,877 patients conducted from 2004 to 2018 were included. Review Manage 5.3 and SPSS 20.0 were applied to complete all statistical analyses. Information on age at onset, sex, initial symptom, family history and complications were obtained via retrospective chart review. Angiographic records were evaluated. In China, geographic proximity to Korea or Japan may affect the carrying rate of RNF213 p.R4810K. The proportion of patients with the following characteristics was significantly higher (P
ISSN:1052-3057
1532-8511
DOI:10.1016/j.jstrokecerebrovasdis.2021.106071