Movement Disorders (revue)

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

Identifieur interne : 001336 ( Main/Exploration ); précédent : 001335; suivant : 001337

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

Auteurs : Jianfeng Xiao [États-Unis] ; Yu Zhao [États-Unis] ; Robert W. Bastian [États-Unis] ; Joel S. Perlmutter [États-Unis] ; Brad A. Racette [États-Unis] ; Samer D. Tabbal [États-Unis] ; Morvarid Karimi [États-Unis] ; Randal C. Paniello [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Ryan J. Uitti [États-Unis] ; Jay A. Van Gerpen [États-Unis] ; David K. Simon [États-Unis] ; Daniel Tarsy [États-Unis] ; Peter Hedera [États-Unis] ; Daniel D. Truong [États-Unis] ; Karen P. Frei [États-Unis] ; Andrew Blitzer [États-Unis] ; Monika Rudzi Ska [Pologne] ; Ronald F. Pfeiffer [États-Unis] ; Carrie Le [États-Unis] ; Mark S. Ledoux [États-Unis]

Source :

RBID : ISTEX:FE564DC4DBD2F6D6E6EC595946430FBB3888B492

English descriptors

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. © 2011 Movement Disorder Society

Url:
DOI: 10.1002/mds.23551


Affiliations:


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Le document en format XML

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<term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Apoptosis Regulatory Proteins (genetics)</term>
<term>Base Sequence</term>
<term>Child</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>DYT6</term>
<term>Dystonic Disorders (etiology)</term>
<term>Dystonic Disorders (genetics)</term>
<term>European Continental Ancestry Group (genetics)</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
<term>THAP1</term>
<term>Untranslated Regions (genetics)</term>
<term>Young Adult</term>
<term>dystonia</term>
<term>high‐resolution melting</term>
<term>untranslated region</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Apoptosis Regulatory Proteins</term>
<term>DNA-Binding Proteins</term>
<term>Nuclear Proteins</term>
<term>Untranslated Regions</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en">
<term>Dystonic Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Dystonic Disorders</term>
<term>European Continental Ancestry Group</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Base Sequence</term>
<term>Child</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Young Adult</term>
</keywords>
</textClass>
<langUsage>
<language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">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. © 2011 Movement Disorder Society</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Pologne</li>
<li>États-Unis</li>
</country>
<region>
<li>Californie</li>
<li>Floride</li>
<li>Illinois</li>
<li>Massachusetts</li>
<li>Missouri (État)</li>
<li>Tennessee</li>
<li>État de New York</li>
</region>
<settlement>
<li>Saint-Louis (Missouri)</li>
</settlement>
<orgName>
<li>École de médecine (Université Washington de Saint-Louis)</li>
</orgName>
</list>
<tree>
<country name="États-Unis">
<region name="Tennessee">
<name sortKey="Xiao, Jianfeng" sort="Xiao, Jianfeng" uniqKey="Xiao J" first="Jianfeng" last="Xiao">Jianfeng Xiao</name>
</region>
<name sortKey="Bastian, Robert W" sort="Bastian, Robert W" uniqKey="Bastian R" first="Robert W." last="Bastian">Robert W. Bastian</name>
<name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name>
<name sortKey="Frei, Karen P" sort="Frei, Karen P" uniqKey="Frei K" first="Karen P." last="Frei">Karen P. Frei</name>
<name sortKey="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name>
<name sortKey="Karimi, Morvarid" sort="Karimi, Morvarid" uniqKey="Karimi M" first="Morvarid" last="Karimi">Morvarid Karimi</name>
<name sortKey="Le, Carrie" sort="Le, Carrie" uniqKey="Le C" first="Carrie" last="Le">Carrie Le</name>
<name sortKey="Le, Carrie" sort="Le, Carrie" uniqKey="Le C" first="Carrie" last="Le">Carrie Le</name>
<name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
<name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
<name sortKey="Paniello, Randal C" sort="Paniello, Randal C" uniqKey="Paniello R" first="Randal C." last="Paniello">Randal C. Paniello</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
<name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
<name sortKey="Racette, Brad A" sort="Racette, Brad A" uniqKey="Racette B" first="Brad A." last="Racette">Brad A. Racette</name>
<name sortKey="Simon, David K" sort="Simon, David K" uniqKey="Simon D" first="David K." last="Simon">David K. Simon</name>
<name sortKey="Tabbal, Samer D" sort="Tabbal, Samer D" uniqKey="Tabbal S" first="Samer D." last="Tabbal">Samer D. Tabbal</name>
<name sortKey="Tarsy, Daniel" sort="Tarsy, Daniel" uniqKey="Tarsy D" first="Daniel" last="Tarsy">Daniel Tarsy</name>
<name sortKey="Truong, Daniel D" sort="Truong, Daniel D" uniqKey="Truong D" first="Daniel D." last="Truong">Daniel D. Truong</name>
<name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<name sortKey="Xiao, Jianfeng" sort="Xiao, Jianfeng" uniqKey="Xiao J" first="Jianfeng" last="Xiao">Jianfeng Xiao</name>
<name sortKey="Zhao, Yu" sort="Zhao, Yu" uniqKey="Zhao Y" first="Yu" last="Zhao">Yu Zhao</name>
<name sortKey="Zhao, Yu" sort="Zhao, Yu" uniqKey="Zhao Y" first="Yu" last="Zhao">Yu Zhao</name>
</country>
<country name="Pologne">
<noRegion>
<name sortKey="Rudzi Ska, Monika" sort="Rudzi Ska, Monika" uniqKey="Rudzi Ska M" first="Monika" last="Rudzi Ska">Monika Rudzi Ska</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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