Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals.

ABSTRACT:

Background

Moyamoya disease (MMD) is a progressive steno-occlusive vasculopathy that involves large intracranial arteries accompanied by abnormal collateral vessels. Recently, RNF213 was identified as a susceptibility gene for MMD and p.Arg4810Lys (rs112735431) is the most common variant in East Asian MMD patients. Interestingly, many studies have reported that a certain proportion of the general population in Japan, Korea, and China also has this variant. In this study, we investigated the frequency of this variant and estimated an odds ratio of MMD using two different Korean populations.

Methods

A total of 1,516 anonymous DNA samples, 799 from an umbilical cord blood bank and 717 from routine health-checked adults, were genotyped using targeted Sanger sequencing.

Result

SUBMITTER: Jang MA 

PROVIDER: S-EPMC4654917 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature