2023
Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome
Tsetsos F, Topaloudi A, Jain P, Yang Z, Yu D, Kolovos P, Tumer Z, Rizzo R, Hartmann A, Depienne C, Worbe Y, Müller-Vahl K, Cath D, Boomsma D, Wolanczyk T, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Padmanabhuni S, Buxbaum J, Grice D, Glennon J, Stefansson H, Hengerer B, Yannaki E, Stamatoyannopoulos J, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Mir P, Morer A, Mueller N, Munchau A, Plessen K, Porcelli C, Roessner V, Walitza S, Schrag A, Martino D, Group T, TSAICG T, Barr C, Batterson J, Berlin C, Budman C, Coppola G, Cox N, Darrow S, Dion Y, Freimer N, Grados M, Greenberg E, Hirschtritt M, Huang A, Illmann C, King R, Kurlan R, Leckman J, Lyon G, Malaty I, McMahon W, Neale B, Okun M, Osiecki L, Robertson M, Rouleau G, Sandor P, Singer H, Smit J, Sul J, Initiative T, Androutsos C, Basha E, Farkas L, Fichna J, Janik P, Kapisyzi M, Karagiannidis I, Koumoula A, Nagy P, Puchala J, Szejko N, Szymanska U, Tsironi V, Group T, Apter A, Ball J, Bodmer B, Bognar E, Buse J, Vela M, Fremer C, Garcia-Delgar B, Gulisano M, Hagen A, Hagstrøm J, Madruga-Garrido M, Pellico A, Ruhrman D, Schnell J, Silvestri P, Skov L, Steinberg T, Gloor F, Turner V, Weidinger E, Network T, Alexander J, Aranyi T, Buisman W, Buitelaar J, Driessen N, Drineas P, Fan S, Forde N, Gerasch S, van den Heuvel O, Jespersgaard C, Kanaan A, Möller H, Nawaz M, Nespoli E, Pagliaroli L, Poelmans G, Pouwels P, Rizzo F, Veltman D, van der Werf Y, Widomska J, Zilhäo N, Group T, Brown L, Cheon K, Coffey B, Fernandez T, Gilbert D, Hong H, Ibanez-Gomez L, Kim E, Kim Y, Kim Y, Koh Y, Kook S, Kuperman S, Leventhal B, Maras A, Murphy T, Shin E, Song D, Song J, State M, Visscher F, Wang S, Zinner S, Tischfield J, Heiman G, Willsey A, Dietrich A, Davis L, Crowley J, Mathews C, Scharf J, Georgitsi M, Hoekstra P, Paschou P. Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome. Biological Psychiatry 2023, 96: 114-124. PMID: 36738982, PMCID: PMC10783199, DOI: 10.1016/j.biopsych.2023.01.023.Peer-Reviewed Original ResearchExpression quantitative trait lociGenome-wide significant lociWide association study dataComplex genetic architectureQuantitative trait lociAssociation study dataGenetic architectureTrait lociChromosome 5q15Significant lociSignificant enrichmentLociNovel insightsNeurodevelopmental disordersChildhood-onset neurodevelopmental disorderHistonesRNAsGenesPolygenic riskFuture studiesEnrichment
2017
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome
Huang AY, Yu D, Davis LK, Sul JH, Tsetsos F, Ramensky V, Zelaya I, Ramos EM, Osiecki L, Chen JA, McGrath LM, Illmann C, Sandor P, Barr CL, Grados M, Singer HS, Nöthen MM, Hebebrand J, King RA, Dion Y, Rouleau G, Budman CL, Depienne C, Worbe Y, Hartmann A, Müller-Vahl KR, Stuhrmann M, Aschauer H, Stamenkovic M, Schloegelhofer M, Konstantinidis A, Lyon GJ, McMahon WM, Barta C, Tarnok Z, Nagy P, Batterson JR, Rizzo R, Cath DC, Wolanczyk T, Berlin C, Malaty IA, Okun MS, Woods DW, Rees E, Pato CN, Pato MT, Knowles JA, Posthuma D, Pauls DL, Cox NJ, Neale BM, Freimer NB, Paschou P, Mathews CA, Scharf JM, Coppola G, Genetics T, Bruun R, Chouinard S, Darrow S, Greenberg E, Hirschtritt M, de la Tourette Syndrome GWAS Replication Initiative T, Kurlan R, Leckman J, Robertson M, Smit J. Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. Neuron 2017, 94: 1101-1111.e7. PMID: 28641109, PMCID: PMC5568251, DOI: 10.1016/j.neuron.2017.06.010.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultCalcium-Binding ProteinsCase-Control StudiesCell Adhesion Molecules, NeuronalChildContactinsDNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleNerve Tissue ProteinsNeural Cell Adhesion MoleculesOdds RatioTourette SyndromeWhite PeopleYoung AdultConceptsCopy number variantsRare copy number variantsSignificant lociGenome-wide significant lociWide significant lociRare structural variationAncestry-matched controlsSNP microarray dataGlobal CNV burdenEuropean ancestry samplesGenetic architectureUnderlying genetic causeMicroarray dataNumber variantsTS casesCNV burdenSingleton eventsGenetic causeStructural variationsLociPathogenic copy number variantsAbnormal developmentModel neuropsychiatric disorderTS riskVariants