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该 c.-237_236GA>TT THAP1 序列变异并不会增加原发性肌张力障碍的风险。

The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.

机构信息

Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.

出版信息

Mov Disord. 2011 Feb 15;26(3):549-52. doi: 10.1002/mds.23551. Epub 2011 Mar 2.

DOI:10.1002/mds.23551
PMID:21370264
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3171986/
Abstract

BACKGROUND

Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia.

METHODS

In this study, 1,446 Caucasian subjects with mainly adult-onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5'-untranslated region of THAP1 (c.-237_236GA>TT).

RESULTS

Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81%) in subjects with dystonia and controls, respectively (P=0.202). Subgroup analyses by gender and anatomical distribution also failed to attain statistical significance. In addition, there was no effect of the TT variant on expression levels of THAP1 transcript or protein.

DISCUSSION

Our findings indicate that the c.-237_236GA>TT THAP1 sequence variant does not increase risk for adult-onset primary dystonia in Caucasians.

摘要

背景

编码区和非编码区的 THAP1 序列变异与原发性肌张力障碍有关。

方法

在这项研究中，对 1446 名主要为成年起病的原发性肌张力障碍患者和 1520 名对照者进行了位于 THAP1 5'-非翻译区的变异（c.-237_236GA>TT）的基因分型。

结果

在肌张力障碍患者和对照组中，等位基因频率分别为 62/2892（2.14%）和 55/3040（1.81%）（P=0.202）。按性别和解剖分布进行的亚组分析也未达到统计学意义。此外，TT 变异对 THAP1 转录本或蛋白的表达水平没有影响。

讨论

我们的研究结果表明，在高加索人群中，c.-237_236GA>TT THAP1 序列变异不会增加成年起病的原发性肌张力障碍的风险。

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本文引用的文献

1
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.THAP1 突变（DYT6）是早发性肌张力障碍的另一个病因。
Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d.
2
Novel THAP1 sequence variants in primary dystonia.原发性肌张力障碍中的新型 THAP1 序列变异。
Neurology. 2010 Jan 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca.
3
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.在外周血中的表达谱揭示了 DYT1 型肌张力障碍的外显率特征。
Neurobiol Dis. 2010 May;38(2):192-200. doi: 10.1016/j.nbd.2009.12.019. Epub 2010 Jan 4.
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Mutation screening of the DYT6/THAP1 gene in Italy.在意大利进行 DYT6/THAP1 基因突变筛查。
Mov Disord. 2009 Dec 15;24(16):2424-7. doi: 10.1002/mds.22861.
5
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.散发性早发性肌张力障碍患者中R29氨基酸残基处一种新的THAP1突变的鉴定。
Mov Disord. 2009 Dec 15;24(16):2428-9. doi: 10.1002/mds.22849.
6
Meige syndrome: what's in a name?梅杰综合征：名称有何含义？
Parkinsonism Relat Disord. 2009 Aug;15(7):483-9. doi: 10.1016/j.parkreldis.2009.04.006. Epub 2009 May 19.
7
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Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1.
8
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.早发性肌张力障碍中THAP1（DYT6）的突变：一项基因筛查研究。
Lancet Neurol. 2009 May;8(5):441-6. doi: 10.1016/S1474-4422(09)70081-X. Epub 2009 Apr 1.
9
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.THAP1基因的突变是DYT6原发性扭转性肌张力障碍的病因。
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