Genomewide association study identifies no major founder variant in Caucasian moyamoya disease

Abstract

Moyamoya disease (MMD) is an idiopathic cerebrovascular occlusive-stenosis disorder at the terminal portion of internal carotid arteries and its main branches, accompanied by collateral vascular networks at the base of the circle of Willis (Takeuchi and Shimizu 1957; Suzuki and Takaku 1969). MMD has the highest prevalence in East Asian countries and a low prevalence in European countries (Goto and Yonekawa 1992; Kuroda and Houkin 2008). We have found that the p.R4810K variant in the ring finger protein 213 (RNF213) is a major founder susceptibility gene for East Asian MMD (Liu et al. 2010, 2011). In this study, we aimed to test whether there is a major founder susceptibility gene for Caucasian MMD using a genomewide association study (GWAS). We demonstrated that there was no major founder variant in Caucasian MMD as it is in East Asian MMD. We identified several suggestive association regions for Caucasian MMD.