title: The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.
abstract: 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.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Bari, Policlinico, Piazza Giulio Cesare, Bari 1 70124, Italy. gdefazio@neurol.uniba.it
authors.forename: Giovanni
authors.initials: G
authors.lastname: Defazio
authors.forename: Mar
authors.initials: M
authors.lastname: Matarin
authors.forename: Elizabeth L
authors.initials: EL
authors.lastname: Peckham
authors.forename: Davide
authors.initials: D
authors.lastname: Martino
authors.forename: Enza M
authors.initials: EM
authors.lastname: Valente
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
authors.forename: Anthony
authors.initials: A
authors.lastname: Crawley
authors.forename: Maria Stella
authors.initials: MS
authors.lastname: Aniello
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: Giovanni
authors.initials: G
authors.lastname: Abbruzzese
authors.forename: Paolo
authors.initials: P
authors.lastname: Girlanda
authors.forename: Paolo
authors.initials: P
authors.lastname: Livrea
authors.forename: Mark
authors.initials: M
authors.lastname: Hallett
authors.forename: Alfredo
authors.initials: A
authors.lastname: Berardelli
mesh_terms: 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
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human