Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.
Sharma
Nutan
N
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. nsharma@partners.org
Franco
Ramon A
RA
Kuster
John K
JK
Mitchell
Adele A
AA
Fuchs
Tania
T
Saunders-Pullman
Rachel
R
Raymond
Deborah
D
Brin
Mitchell F
MF
Blitzer
Andrew
A
Bressman
Susan B
SB
Ozelius
Laurie J
LJ
D000328:Adult; D000368:Aged; D020821:Dystonic Disorders / Q000145:classification / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
D018832:Molecular Chaperones; C491547:TOR1B protein, human