Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.

ABSTRACT:

Background

A founder variant of RNF213, p.R4810K (c.14429G>A, rs112735431), was recently identified as a major genetic risk factor for moyamoya disease (MMD) in Japan. Although the association of p.R4810K was reported to be highly significant and reproducible, the disease susceptibility of other RNF213 variants remains largely unknown. In the present study, we systematically evaluated the coding variants detected in Japanese patients and controls for associations with MMD.

Methods and results

To detect variants of RNF213, all coding exons were sequenced in 27 Japanese MMD patients without p.R4810K. We also validated all previously reported variants in our case-control samples and tested for associations in combination with previous Japanese study cohorts, including the 1000

SUBMITTER: Moteki Y 

PROVIDER: S-EPMC4599414 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature