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 front 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 it genetic contribution to BSP spread. (C) 2009 Movement Disorder Society

The TOR1A Polymorphism rs1182 and the Risk of Spread in Primary Blepharospasm

VALENTE, ENZA MARIA;
2009-01-01

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 front 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 it genetic contribution to BSP spread. (C) 2009 Movement Disorder Society
2009
Molecular Biology & Genetics considers all aspects of basic and applied genetics, including molecular genetics, prokaryotic and eukaryotic gene expression, mechanisms of mutagenesis, structure, function and regulation of genetic material. Also included are resources concerned with clinical genetics, patterns of inheritance, genetic cause, and screening and treatment of disease. Resources dealing specifically with developmentally regulated gene expression, or with signal transduction pathways that modulate gene expression at the cellular level are excluded and are covered in the Cell and Developmental Biology category.
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4
613
616
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14
info:eu-repo/semantics/article
262
Defazio, Giovanni; Matarin, Mar; Peckham, Elizabeth L.; Martino, Davide; Valente, ENZA MARIA; Singleton, Andrew; Crawley, Anthony; Aniello, Maria Stel...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1180652
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