Molecular Epidemiology in East Asian Countries and in the World

Abstract

Although the etiology of moyamoya disease (MMD) remains unknown, recent genetic studies have identified RNF213 p.R4810K in the 17q25-ter region as the most important founder susceptibility gene for MMD among East Asian populations, mainly including Japanese, Korean, and Chinese. Following the discovery studies, RNF213 p.R4810K was replicated as an important founder susceptibility gene for MMD among many additional cohorts of East Asian populations. Moreover, many rare variants other than the founder one in RNF213 also contributed to MMD across different populations in the world. Possibly because of the presence of the major founder effects of RNF213 p.R4810K in East Asian patients, but not in Caucasian patients, the incidence and prevalence of MMD is relatively higher in East Asian countries than those in other countries. This chapter will discuss the molecular epidemiology of MMD in Asian and other populations in the world.