Show simple item record Bertelsen B Stefánsson H Riff Jensen L Melchior L Mol Debes N Groth C Skov L Werge T Karagiannidis I Tárnok, Zsanett Barta, Csaba Nagy, Péter Farkas L Brøndum-Nielsen K Rizzo R Gulisano M Rujescu D Kiemeney LA Tosato S Nawaz MS Ingason A Unnsteinsdottir U Steinberg S Ludvigsson P Stefansson K Kuss AW Paschou P Cath D Hoekstra PJ Müller-Vahl K Stuhrmann M Silahtaroglu A Pfundt R Tümer Z 2019-04-15T08:18:45Z 2019-04-15T08:18:45Z 2016
dc.identifier 84945945271
dc.identifier.citation journalVolume=79;journalIssueNumber=5;journalTitle=BIOLOGICAL PSYCHIATRY;pagerange=383-391;journalAbbreviatedTitle=BIOL PSYCHIAT;
dc.identifier.uri doi:10.1016/j.biopsych.2015.08.027
dc.description.abstract Background: Gilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder with a strong genetic influence where copy number variations are suggested to play a role in disease pathogenesis. In a previous small-scale copy number variation study of a GTS cohort (n = 111), recurrent exon-affecting microdeletions of four genes, including the gene encoding arylacetamide deacetylase (AADAC), were observed and merited further investigations. Methods: We screened a Danish cohort of 243 GTS patients and 1571 control subjects for submicroscopic deletions and duplications of these four genes. The most promising candidate gene, AADAC, identified in this Danish discovery sample was further investigated in cohorts from Iceland, the Netherlands, Hungary, Germany, and Italy, and a final meta-analysis, including a total of 1181 GTS patients and 118,730 control subjects from these six European countries, was performed. Subsequently, expression of the candidate gene in the central nervous system was investigated using human and mouse brain tissues. Results: In the Danish cohort, we identified eight patients with overlapping deletions of AADAC. Investigation of the additional five countries showed a significant association between the AADAC deletion and GTS, and a final meta-analysis confirmed the significant association (p = 4.4 × 10-4; odds ratio = 1.9; 95% confidence interval = 1.33-2.71). Furthermore, RNA in situ hybridization and reverse transcription-polymerase chain reaction studies revealed that AADAC is expressed in several brain regions previously implicated in GTS pathology. Conclusions: AADAC is a candidate susceptibility factor for GTS and the present findings warrant further genomic and functional studies to investigate the role of this gene in the pathogenesis of GTS. © 2015 Society of Biological Psychiatry.
dc.format.extent 383-391
dc.relation.ispartof urn:issn:0006-3223
dc.title Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort
dc.type Journal Article 2019-02-27T12:24:17Z
dc.language.rfc3066 en
dc.rights.holder NULL
dc.identifier.mtmt 3002126
dc.identifier.wos 000369370000010
dc.identifier.pubmed 26444075
dc.contributor.department SE/AOK/I/Orvosi Vegytani, Molekuláris Biológiai és Patobiokémiai Intézet
dc.contributor.institution Semmelweis Egyetem

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