title: [Current knowledge on the genetic factors involved in moyamoya disease].
abstract: Moyamoya disease (MMD) is characterized by progressive stenosis and occlusion of the terminal portion of the bilateral carotid arteries as well as arterial collateral vessels. The etiology of MMD, however, remains unknown. Several pieces of evidence suggest the involvement of genetic factors in MMD: over 10% of MMD patients have affected blood relatives; concordance in the affection status has been proven in 80% of identical twins; and there is an ethnic predisposition to MMD, the incidence of the disease being the highest in the Asian population. With regard to genetic factor (s), transmission of MMD does not follow the classic Mendelian law, i.e., skipping of a generation and discordance in identical twins, thereby indicating that genetic influence is likely to determine the susceptibility to MMD. This study aimed to overview the recent findings related to the genetic determinants in MMD and to provide research perspectives for the next decade. Pathophysiological investigations at molecular levels have uncovered the upregulation of various growth and stress response factors that are associated with angiogenesis in occlusive cerebral arteries.
authors.affiliation: Department of Health, Kyoto University Graduate School of Medicine, Japan.
authors.forename: Hirokuni
authors.initials: H
authors.lastname: Hashikata
authors.forename: Wanyang
authors.initials: W
authors.lastname: Liu
authors.forename: Yohei
authors.initials: Y
authors.lastname: Mineharu
authors.forename: Kayoko
authors.initials: K
authors.lastname: Inoue
authors.forename: Katsunobu
authors.initials: K
authors.lastname: Takenaka
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Ikeda
authors.forename: Kiyohiro
authors.initials: K
authors.lastname: Houkin
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kuroda
authors.forename: Kenji
authors.initials: K
authors.lastname: Kikuchi
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Kimura
authors.forename: Takuyuu
authors.initials: T
authors.lastname: Taki
authors.forename: Makoto
authors.initials: M
authors.lastname: Sonobe
authors.forename: Sadahiko
authors.initials: S
authors.lastname: Ban
authors.forename: Hidekazu
authors.initials: H
authors.lastname: Nogaki
authors.forename: Akira
authors.initials: A
authors.lastname: Handa
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Kikuta
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Takagi
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Nozaki
authors.forename: Nobuo
authors.initials: N
authors.lastname: Hashimoto
authors.forename: Akio
authors.initials: A
authors.lastname: Koizumi
mesh_terms: D002874:Chromosome Mapping; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D009072:Moyamoya Disease / Q000235:genetics*
chemical_list: D006680:HLA Antigens