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Int J Mol Epidemiol Genet 2012;3(1):91-95

Original Article
An examination of TOR1A variants in recurrent major depression

Heining FA, Langguth B, Eichhammer P, Domani M, Hajak G, Sand PG

Department of Psychiatry, University of Regensburg, Germany

Received February 20, 2012; accepted February 25, 2012; Epub Feb 28, 2012; Published March 15, 2012

Abstract: Background: Observations of comorbid depression in subjects with primary dystonia have suggested a dual role for
the TOR1A gene in mood disorders and movement disorders. We conducted a systematic search for carriers of the ΔGAG
deletion and for other variants in TOR1A exon 5 among 414 Caucasian subjects with recurrent major depression from the
Upper Palatinate. Findings: Allele frequencies were determined for 27 TOR1A diallelic markers, including two novel
synonymous substitutions (L262L and E310E) in the region encoding the torsinA Cterminus, plus four novel variants in the
gene’s 3’UTR. No carriers of the ΔGAG deletion were observed. When data were compared to previously examined control
populations, no significant allelic associations were noted after corrections for multiple testing. Conclusions: The present study
adds to the spectrum of TOR1A mutations but provides no evidence of a common genetic predisposition to DYT1 dystonia and
recurrent major depression. (IJMEG1112003).

Keywords: DYT1, TOR1A, torsion dystonia, recurrent major depression, genetic variation

Address all correspondence to:
Dr. Philipp G
Sand,Department of Psychiatry
University of Regensburg, Universitaetsstrasse 84, 93053
Regensburg, Germany.
Tel: +49 - 941 - 944-8955; Fax: + 49 - 941 - 944 8956
E-mail: philipp.sand@klinik.uni-regensburg.de