Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia.
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.
Kamm
C
C
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tuebingen, Hoppe-Seyler-Str. 3, 72086 Tuebingen, Germany.
Asmus
F
F
Mueller
J
J
Mayer
P
P
Sharma
M
M
Muller
U J
UJ
Beckert
S
S
Ehling
R
R
Illig
T
T
Wichmann
H E
HE
Poewe
W
W
Mueller
J C
JC
Gasser
T
T
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
D005819:Genetic Markers; D018832:Molecular Chaperones; C108175:TOR1A protein, human; C491547:TOR1B protein, human