The c.-237-236GA>TT THAP1 sequence variant does not increase risk for primary dystonia

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

doi:10.1002/mds.23551

The c.-237-236GA>TT THAP1 sequence variant does not increase risk for primary dystonia

Jianfeng Xiao, Yu Zhao, Robert W. Bastian, Joel S. Perlmutter, Brad A. Racette, Samer D. Tabbal, Morvarid Karimi, Randal C. Paniello, Zbigniew K. Wszolek, Ryan J. Uitti, Jay A. Van Gerpen, David K. Simon, Daniel Tarsy, Peter Hedera, Daniel D. Truong, Karen P. Frei, Andrew Blitzer, Monika Rudzińska, Ronald F. Pfeiffer, Carrie LeMark S. Ledoux

Neurology

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

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.

Original language	English (US)
Pages (from-to)	549-553
Number of pages	5
Journal	Movement Disorders
Volume	26
Issue number	3
DOIs	https://doi.org/10.1002/mds.23551
State	Published - Feb 15 2011

Keywords

DYT6
Dystonia
High-resolution melting
THAP1
Untranslated region

ASJC Scopus subject areas

Neurology
Clinical Neurology

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Xiao, J., Zhao, Y., Bastian, R. W., Perlmutter, J. S., Racette, B. A., Tabbal, S. D., Karimi, M., Paniello, R. C., Wszolek, Z. K., Uitti, R. J., Van Gerpen, J. A., Simon, D. K., Tarsy, D., Hedera, P., Truong, D. D., Frei, K. P., Blitzer, A., Rudzińska, M., Pfeiffer, R. F., ... Ledoux, M. S. (2011). The c.-237-236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. Movement Disorders, 26(3), 549-553. https://doi.org/10.1002/mds.23551

Xiao, J, Zhao, Y, Bastian, RW, Perlmutter, JS, Racette, BA, Tabbal, SD, Karimi, M, Paniello, RC, Wszolek, ZK, Uitti, RJ, Van Gerpen, JA, Simon, DK, Tarsy, D, Hedera, P, Truong, DD, Frei, KP, Blitzer, A, Rudzińska, M, Pfeiffer, RF, Le, C & Ledoux, MS 2011, 'The c.-237-236GA>TT THAP1 sequence variant does not increase risk for primary dystonia', Movement Disorders, vol. 26, no. 3, pp. 549-553. https://doi.org/10.1002/mds.23551

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title = "The c.-237-236GA>TT THAP1 sequence variant does not increase risk for primary dystonia",

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.",

keywords = "DYT6, Dystonia, High-resolution melting, THAP1, Untranslated region",

author = "Jianfeng Xiao and Yu Zhao and Bastian, {Robert W.} and Perlmutter, {Joel S.} and Racette, {Brad A.} and Tabbal, {Samer D.} and Morvarid Karimi and Paniello, {Randal C.} and Wszolek, {Zbigniew K.} and Uitti, {Ryan J.} and {Van Gerpen}, {Jay A.} and Simon, {David K.} and Daniel Tarsy and Peter Hedera and Truong, {Daniel D.} and Frei, {Karen P.} and Andrew Blitzer and Monika Rudzi{\'n}ska and Pfeiffer, {Ronald F.} and Carrie Le and Ledoux, {Mark S.}",

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AU - Zhao, Yu

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AU - Racette, Brad A.

AU - Tabbal, Samer D.

AU - Karimi, Morvarid

AU - Paniello, Randal C.

AU - Wszolek, Zbigniew K.

AU - Uitti, Ryan J.

AU - Van Gerpen, Jay A.

AU - Simon, David K.

AU - Tarsy, Daniel

AU - Hedera, Peter

AU - Truong, Daniel D.

AU - Frei, Karen P.

AU - Blitzer, Andrew

AU - Rudzińska, Monika

AU - Pfeiffer, Ronald F.

AU - Le, Carrie

AU - Ledoux, Mark S.

PY - 2011/2/15

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N2 - 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.

AB - 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.

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KW - High-resolution melting

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The c.-237-236GA>TT THAP1 sequence variant does not increase risk for primary dystonia

Abstract

Keywords

ASJC Scopus subject areas

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