Is TOR1A a risk factor in adult‐onset primary torsion dystonia?. Issue 6 (4th March 2013)

• Record Type: Journal Article
• Authors: Groen, Justus L.; Ritz, Katja; Tanck, Michael W.; van de, Bart P.; van, Jacobus J.; Aramideh, Majid; Baas, Frank; Tijssen, Marina A. J.
• Is Part Of: Movement disorders. Volume 28:Issue 6(2013)
• Page Start: 827
• Page End: 831
• Publication Date: 2013-03-04
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.25381
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="mds25381-sec-0001" sec-type="section"> <title>Background</title> <p>Studies of genetic association between <italic>TOR1A</italic> and adult‐onset primary torsion dystonia have contradictory results.</p> </sec> <sec id="mds25381-sec-0002" sec-type="section"> <title>Methods</title> <p>The authors genotyped <italic>TOR1A</italic> single nucleotide polymorphisms rs1801968, rs2296793, rs1182 and rs3842225 in a cohort of clinically well characterized cervical dystonia patients (n=367) and constructed haplotypes. The authors systematically reviewed the published case‐control <italic>TOR1A</italic> association studies in adult‐onset primary torsion dystonia.</p> </sec> <sec id="mds25381-sec-0003" sec-type="section"> <title>Results</title> <p>In this Dutch cervical dystonia cohort, no significant association was found with <italic>TOR1A</italic> variants. In the meta‐analysis (eight studies, 1332 adult‐onset primary dystonia patients) no variant reached overall significance. However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01–2.02).</p> </sec> <sec id="mds25381-sec-0004" sec-type="section"> <title>Conclusions</title> <p>Meta‐analysis does not show association with common variants in <italic>TOR1A</italic> in adult‐onset primary dystonia, except for the functional variant rs1801968 in familial focal dystonia cases. © 2013 <italic>Movement</italic> Disorder Society</p> </sec> </abstract>