Analysis of D216H Polymorphism in Argentinean Patients With Primary Dystonia

Abstract

The D216H polymorphism (rs1801968) in TOR1A has been suggested as a risk factor for developing primary dystonia in German subjects not carrying the deletion c.904-906delGAG (∆GAG). However, this association could not be confirmed in other populations with different ethnic backgrounds. The purpose of this study is to evaluate the D216H polymorphism in an Argentinean cohort of 40 patients with primary dystonia and 200 unrelated control subjects. The authors could observe a significantly higher frequency of the H216 variant in dystonic patients lacking ∆GAG as compared with controls.

Keywords::

• Argentina
• D216H
• primary torsion dystonia
• rs1801968

ACKNOWLEDGMENTS

This work was supported, in part, by grants PIP 112-200801-02836 CONICET and UBACyT 20020100100744 awarded to Daniel Corach; FOCANLIS 2010 (grants of the National Agency of Laboratories and Health Institutes of Health ANLIS, Dr. Carlos G. Malbrán): “Clinical and Molecular Characterization of Early-Onset Primary Dystonia in an Argentinean Population,” 2011–2012, awarded to Claudia Perandones. Daniel Corach, Evguenia Alechine, and Mariela Caputo are members of CONICET (National Scientific and Technical Research Council). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.