The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea.

ABSTRACT: Although a founder variant of RNF213 4810G>A is a major genetic risk factor for moyamoya disease (MMD) in East Asians, the frequency and disease susceptibility of RNF213 variants remain largely unknown. This study investigated the mutation analysis of RNF213 (4448, 4810, 4863, and 4950) between Korean MMD and healthy controls. We performed a polymerase chain reaction-restriction fragment length polymorphism analysis. To identify the association between RNF213 gene polymorphisms and MMD disease, we performed statistical analyses such as multivariable logistic regression and Fisher's exact test. Genetic data from 117 MMD patients were analyzed and compared with 253 healthy controls. We assessed and compared single nucleotide polymorphisms of RNF213 (4448, 4

SUBMITTER: Park YS 

PROVIDER: S-EPMC5713443 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature