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

被引：27

作者：

Defazio, Giovanni ^{[1
]}

Matarin, Mar ^{[2
]}

Peckham, Elizabeth L. ^{[3
]}

Martino, Davide ^{[1
]}

Valente, Enza M. ^{[4
]}

Singleton, Andrew ^{[2
]}

Crawley, Anthony ^{[3
]}

Aniello, Maria Stella ^{[1
]}

Brancati, Francesco ^{[4
]}

Abbruzzese, Giovanni ^{[5
]}

Girlanda, Paolo ^{[6
]}

Livrea, Paolo ^{[1
]}

Hallett, Mark ^{[3
]}

Berardelli, Alfredo ^{[7
,8
]}

机构：

[1] Univ Bari, Dept Neurol & Psychiat Sci, I-70124 Bari, Italy

[2] NIA, Mol Genet Unit, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[3] NINDS, Human Motor Control Sect, NIH, Bethesda, MD 20892 USA

[4] IRCCS CSS Mendel Inst, Neurogenet Unit, Rome, Italy

[5] Univ Genoa, Dept Neurosci Ophthalmol & Genet, I-16126 Genoa, Italy

[6] Univ Messina, Dept Neurosci Psychiat & Anesthesiol, I-98100 Messina, Italy

[7] Univ Roma La Sapienza, Dept Neurol Sci, Rome, Italy

[8] Univ Roma La Sapienza, NEUROMED Inst, Rome, Italy

来源：

MOVEMENT DISORDERS | 2009年 / 24卷 / 04期

基金：

美国国家卫生研究院;

关键词：

TOR1A; single-nucelotide polymorphisms; blepharospasm; primary adult-onset; dystonia; spread; IDIOPATHIC DYSTONIA; DIAGNOSTIC-CRITERIA; ASSOCIATION; HAPLOTYPE; DYT1;

D O I：

10.1002/mds.22471

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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

引用

页码：613 / 616

页数：4

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