Article
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
Journal of human genetics - 1 Jan 2011
Kamada Fumiaki, Aoki Yoko, Narisawa Ayumi, Abe Yu, Komatsuzaki Shoko, Kikuchi Atsuo, Kanno Junko, Niihori Tetsuya, Ono Masao, Ishii Naoto, Owada Yuji, Fujimura Miki, Mashimo Yoichi, Suzuki Yoichi, Hata Akira, Tsuchiya Shigeru, Tominaga Teiji, Matsubara Yoichi, Kure Shigeo
Abstract excerpt
Moyamoya disease (MMD) shows progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. Although ∼ 15% of MMD cases are familial, the MMD gene(s) remain unknown. A genome-wide association study of 785,720 single-nucleotide polymorphisms (SNPs) was performed, comparing 72 Japanese MMD patients with 45 Japanese controls and resulting in a strong...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.