Predictive role of heterozygous p.R4810K of <i>RNF213</i> in the phenotype of Chinese moyamoya disease
Yue Wang, Zhengshan Zhang, Ling Wei, Qian Zhang, Zhengxing Zou, Luping Yang, Desheng Li, Mengke Shang, Cong Han, Michael Mambiya, Xiang‐Yang Bao, Qian Li, Fangbin Hao, Kaili Zhang, Hui Wang, Shan Liu, Mengwei Liu, Fanxin Zeng, Fangfang Nie, Kai Wang, Wanyang Liu, Lian Duan
Abstract
OBJECTIVE: ) in relation to a particular clinical phenotype in Chinese patients with moyamoya disease (MMD) to determine whether heterozygosity is responsible for the early-onset and severe form of this disease. METHODS: p.R4810K involving 1,385 Chinese patients with MMD and 2,903 normal control participants was performed. Correlation analyses between genotype and phenotype or different clinical features were also statistically explored. RESULTS: ). CONCLUSIONS: p.R4810K is closely related MMD risk in China and has given rise to an earlier onset age and more severe PCA involvement.