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

SUBMITTER: Xiao J 

PROVIDER: S-EPMC3171986 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature