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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
The c.-237-236GA>TT THAP1 sequence variant does not increase risk for primary dystonia
Movement Disorders, Volume 26, No. 3, Year 2011
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Description
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.
Authors & Co-Authors
Bastian, Robert W.
Unknown Affiliation
Perlmutter, Joel S.
United States, St. Louis
Washington University School of Medicine in St. Louis
Racette, Brad A.
United States, St. Louis
Washington University School of Medicine in St. Louis
Tabbal, Samer D.
United States, St. Louis
Washington University School of Medicine in St. Louis
Wszołek, Zbigniew K.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Uitti, Ryan J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Rudzińska-Bar, Monika
Poland, Krakow
Jagiellonian University Medical College
Statistics
Citations: 17
Authors: 7
Affiliations: 6
Identifiers
Doi:
10.1002/mds.23551
ISSN:
15318257
Research Areas
Genetics And Genomics