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 & 1 others Mark Ledoux

Research output: Contribution to journalArticle

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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 languageEnglish (US)
Pages (from-to)549-553
Number of pages5
JournalMovement Disorders
Volume26
Issue number3
DOIs
StatePublished - Feb 15 2011

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Dystonic Disorders
Dystonia
5' Untranslated Regions
Gene Frequency
Proteins

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

The c.-237-236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. / Xiao, Jianfeng; Zhao, Yu; Bastian, Robert W.; Perlmutter, Joel S.; Racette, Brad A.; Tabbal, Samer D.; Karimi, Morvarid; Paniello, Randal C.; Wszolek, Zbigniew K.; Uitti, Ryan J.; Van Gerpen, Jay A.; Simon, David K.; Tarsy, Daniel; Hedera, Peter; Truong, Daniel D.; Frei, Karen P.; Blitzer, Andrew; Rudzińska, Monika; Pfeiffer, Ronald F.; Le, Carrie; Ledoux, Mark.

In: Movement Disorders, Vol. 26, No. 3, 15.02.2011, p. 549-553.

Research output: Contribution to journalArticle

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, M 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
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD et al. The c.-237-236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. Movement Disorders. 2011 Feb 15;26(3):549-553. https://doi.org/10.1002/mds.23551
Xiao, Jianfeng ; Zhao, Yu ; Bastian, Robert W. ; Perlmutter, Joel S. ; Racette, Brad A. ; Tabbal, Samer D. ; Karimi, Morvarid ; Paniello, Randal C. ; Wszolek, Zbigniew K. ; Uitti, Ryan J. ; Van Gerpen, Jay A. ; Simon, David K. ; Tarsy, Daniel ; Hedera, Peter ; Truong, Daniel D. ; Frei, Karen P. ; Blitzer, Andrew ; Rudzińska, Monika ; Pfeiffer, Ronald F. ; Le, Carrie ; Ledoux, Mark. / The c.-237-236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. In: Movement Disorders. 2011 ; Vol. 26, No. 3. pp. 549-553.
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