Show simple item record Alexander J Potamianou H Xing JC Deng L Karagiannidis I Tsetsos F Drineas P Tarnok Z Rizzo R Wolanczyk T Farkas L Nagy P Szymanska U Androutsos C Tsironi V Koumoulas A Barta, Csaba Sandor P Barr CL Tischfield J Paschou P Heiman GA Georgitsi M 2018-06-22T10:49:27Z 2018-06-22T10:49:27Z 2016
dc.identifier 84992016847
dc.identifier.citation pagination=428, pages: 7; journalVolume=10; journalTitle=FRONTIERS IN NEUROSCIENCE;
dc.identifier.uri doi:10.3389/fnins.2016.00428
dc.description.abstract Although the genetic basis of Tourette Syndrome (TS) remains unclear, several candidate genes have been implicated. Using a set of 382 TS individuals of European ancestry we investigated four candidate genes for TS (HDC, SLITRK1, BTBD9, and SLC6A4) in an effort to identify possibly causal variants using a targeted re-sequencing approach by next generation sequencing technology. Identification of possible disease causing variants under different modes of inheritance was performed using the algorithms implemented in VAAST. We prioritized variants using Variant ranker and validated five rare variants via Sanger sequencing in HDC and SLITRK1, all of which are predicted to be deleterious. Intriguingly, one of the identified variants is in linkage disequilibrium with a variant that is included among the top hits of a genome-wide association study for response to citalopram treatment, an antidepressant drug with off-label use also in obsessive compulsive disorder. Our findings provide additional evidence for the implication of these two genes in TS susceptibility and the possible role of these proteins in the pathobiology of TS should be revisited.
dc.relation.ispartof urn:issn:1662-4548
dc.title Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology
dc.type Journal Article 2018-02-19T13:05:57Z
dc.language.rfc3066 en
dc.identifier.mtmt 3185080
dc.identifier.wos 000383764300001
dc.identifier.pubmed 27708560
dc.contributor.department SE/AOK/I/Orvosi Vegytani, Molekuláris Biológiai és Patobiokémiai Intézet
dc.contributor.institution Semmelweis Egyetem

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