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

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

Jianfeng Xiao  1 , 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
Affiliations

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

Jianfeng Xiao et al. Mov Disord. .

Erratum in

  • Mov Disord. 2012 Mar;27(3):465

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.

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Conflict of interest statement

Potential conflict of interest: None of the authors has any financial interest or conflicts of interest in the work presented in this manuscript.

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