The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.
We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan-Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread.
Defazio
Giovanni
G
Department of Neurological and Psychiatric Sciences, University of Bari, Policlinico, Piazza Giulio Cesare, Bari 1 70124, Italy. gdefazio@neurol.uniba.it
Matarin
Mar
M
Peckham
Elizabeth L
EL
Martino
Davide
D
Valente
Enza M
EM
Singleton
Andrew
A
Crawley
Anthony
A
Aniello
Maria Stella
MS
Brancati
Francesco
F
Abbruzzese
Giovanni
G
Girlanda
Paolo
P
Livrea
Paolo
P
Hallett
Mark
M
Berardelli
Alfredo
A
D000368:Aged; D001764:Blepharospasm / Q000235:genetics* / Q000401:mortality; D016009:Chi-Square Distribution; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D016016:Proportional Hazards Models; D012189:Retrospective Studies; D012307:Risk Factors; D012680:Sensitivity and Specificity; D014481:United States
D018832:Molecular Chaperones; C108175:TOR1A protein, human