title: Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia.
abstract: Recently, association of a TOR1A(DYT1)/TOR1B risk haplotype with common forms of idiopathic dystonia has been reported in the Icelandic population. Here we report a strong association of two single nucleotide polymorphisms within or in close proximity to the TOR1A 3'UTR, with the lowest p value being 0.000008, in a larger cohort of German and Austrian patients with predominantly focal sporadic dystonia.
authors.affiliation: Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tuebingen, Hoppe-Seyler-Str. 3, 72086 Tuebingen, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Kamm
authors.forename: F
authors.initials: F
authors.lastname: Asmus
authors.forename: J
authors.initials: J
authors.lastname: Mueller
authors.forename: P
authors.initials: P
authors.lastname: Mayer
authors.forename: M
authors.initials: M
authors.lastname: Sharma
authors.forename: U J
authors.initials: UJ
authors.lastname: Muller
authors.forename: S
authors.initials: S
authors.lastname: Beckert
authors.forename: R
authors.initials: R
authors.lastname: Ehling
authors.forename: T
authors.initials: T
authors.lastname: Illig
authors.forename: H E
authors.initials: HE
authors.lastname: Wichmann
authors.forename: W
authors.initials: W
authors.lastname: Poewe
authors.forename: J C
authors.initials: JC
authors.lastname: Mueller
authors.forename: T
authors.initials: T
authors.lastname: Gasser
mesh_terms: D000328:Adult; D000367:Age Factors; D001317:Austria; D001923:Brain Chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D005858:Germany; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012737:Sex Factors
chemical_list: D005819:Genetic Markers; D018832:Molecular Chaperones; C108175:TOR1A protein, human; C491547:TOR1B protein, human