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The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm
Author(s) -
Defazio Giovanni,
Matarin Mar,
Peckham Elizabeth L.,
Martino Davide,
Valente Enza M.,
Singleton Andrew,
Crawley Anthony,
Aniello Maria Stella,
Brancati Francesco,
Abbruzzese Giovanni,
Girlanda Paolo,
Livrea Paolo,
Hallett Mark,
Berardelli Alfredo
Publication year - 2009
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22471
Subject(s) - blepharospasm , dystonia , proportional hazards model , allele , polymorphism (computer science) , age of onset , medicine , genetics , demography , biology , gene , psychiatry , disease , sociology
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. © 2009 Movement Disorder Society