title: [No association between moyamoya disease and polymorphism of IGF2R].
abstract: Moyamoya disease is a cerebrovascular disorder of unknown etiology. Its high incidence in East Asia and accumulation in family members suggest a genetic background. A high incidence of maternal inheritance implicates genomic imprinting in this disorder. Based on this hypothesis, we studied the association between moyamoya disease and IGF2R gene on chromosome 6, but found no evidence for such association between them. On the other hand, heterogeneous expressions of IGF2R were confirmed in the lymphocytes. Some individuals showed monoallelic expression and others showed biallelic expression.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa. tyamamoto-jes@umin.ac.jp
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Yuko
authors.initials: Y
authors.lastname: Akasaka
authors.forename: Kyoichi
authors.initials: K
authors.lastname: Ohtani
authors.forename: Takashi
authors.initials: T
authors.lastname: Hayashi
authors.forename: Shiro
authors.initials: S
authors.lastname: Kashiwagi
authors.forename: Takashi
authors.initials: T
authors.lastname: Ichiyama
authors.forename: Miki
authors.initials: M
authors.lastname: Nishikawa
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maegaki
authors.forename: Akira
authors.initials: A
authors.lastname: Oka
authors.forename: Kousaku
authors.initials: K
authors.lastname: Ohno
mesh_terms: D000328:Adult; D000483:Alleles; D002648:Child; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D008297:Male; D009072:Moyamoya Disease / Q000235:genetics*; D011110:Polymorphism, Genetic; D017527:Receptor, IGF Type 2 / Q000235:genetics*
chemical_list: D017527:Receptor, IGF Type 2