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Heining, F. A. ; Langguth, Berthold ; Eichhammer, Peter ; Domani, M. ; Hajak, Göran ; Sand, Philipp G.

An examination of TOR1A variants in recurrent major depression

Article

Heining, F. A., Langguth, Berthold, Eichhammer, Peter, Domani, M., Hajak, Göran and Sand, Philipp G. (2012) An examination of TOR1A variants in recurrent major depression. International Journal of Molecular Epidemiology and Genetics 3 (1), pp. 91-95.

DOI to cite this document: 10.5283/epub.23616


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 ∆GAG 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 ...

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 ∆GAG 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 C-terminus, plus four novel variants in the gene’s 3’UTR. No carriers of the ∆GAG 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.



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Details

Item typeArticle
Journal or Publication TitleInternational Journal of Molecular Epidemiology and Genetics
Publishere-Century Publishing Corporation
Open Access TypeGold (with APC)
Volume3
Number of Issue or Book Chapter1
Page Rangepp. 91-95
Date2012
Date of publication21 Mar 2012 10:12
InstitutionsMedicine > Lehrstuhl für Psychiatrie und Psychotherapie
Identification Number
ValueType
22493756PubMed ID
Related URLs
URLURL Type
http://www.ijmeg.org/IJMEG1202003A.htmlPublisher
KeywordsDYT1, TOR1A, torsion dystonia, recurrent major depression, genetic variation
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
URN of the UB Regensburgurn:nbn:de:bvb:355-epub-236169
Item ID23616

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