Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population.

ABSTRACT:

Background

Moyamoya disease (MMD) is an uncommon cerebrovascular disorder characterized by progressive occlusion of the internal carotid artery causing cerebral ischemia and hemorrhage. Genetic factors in the etiology and pathogenesis of MMD are being increasingly recognized. Previous studies have shown that the RNF213 gene was related to MMD susceptibility in the Japanese population. However, there is no large scale study of the association between this gene and MMD in the Chinese Han population. Thus we designed this case-control study to validate the R4810K mutation and to define the further spectrum of RNF213 mutations in Han Chinese.

Methodology/principal findings

Genotyping of the R4810K mutation in the RNF213 gene was performed in 170 MMD cases and 507 controls from a

SUBMITTER: Wu Z 

PROVIDER: S-EPMC3479116 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature