2021
Synaptic processes and immune-related pathways implicated in Tourette syndrome
Tsetsos F, Yu D, Sul JH, Huang AY, Illmann C, Osiecki L, Darrow SM, Hirschtritt ME, Greenberg E, Muller-Vahl KR, Stuhrmann M, Dion Y, Rouleau GA, Aschauer H, Stamenkovic M, Schlögelhofer M, Sandor P, Barr CL, Grados MA, Singer HS, Nöthen MM, Hebebrand J, Hinney A, King RA, Fernandez TV, Barta C, Tarnok Z, Nagy P, Depienne C, Worbe Y, Hartmann A, Budman CL, Rizzo R, Lyon GJ, McMahon WM, Batterson JR, Cath DC, Malaty IA, Okun MS, Berlin C, Woods DW, Lee PC, Jankovic J, Robertson MM, Gilbert DL, Brown LW, Coffey BJ, Dietrich A, Hoekstra PJ, Kuperman S, Zinner SH, Wagner M, Knowles JA, Jeremy Willsey A, Tischfield JA, Heiman GA, Cox NJ, Freimer NB, Neale BM, Davis LK, Coppola G, Mathews CA, Scharf JM, Paschou P, Barr C, Batterson J, Berlin C, Budman C, Cath D, Coppola G, Cox N, Darrow S, Davis L, Dion Y, Freimer N, Grados M, Greenberg E, Hirschtritt M, Huang A, Illmann C, King R, Kurlan R, Leckman J, Lyon G, Malaty I, Mathews C, McMahon W, Neale B, Okun M, Osiecki L, Robertson M, Rouleau G, Sandor P, Scharf J, Singer H, Smit J, Sul J, Yu D, Aschauer H, Barta C, Budman C, Cath D, Depienne C, Hartmann A, Hebebrand J, Konstantinidis A, Mathews C, Müller-Vahl K, Nagy P, Nöthen M, Paschou P, Rizzo R, Rouleau G, Sandor P, Scharf J, Schlögelhofer M, Stamenkovic M, Stuhrmann M, Tsetsos F, Tarnok Z, Wolanczyk T, Worbe Y, Brown L, Cheon K, Coffey B, Dietrich A, Fernandez T, Garcia-Delgar B, Gilbert D, Grice D, Hagstrøm J, Hedderly T, Heiman G, Heyman I, Hoekstra P, Huyser C, Kim Y, Kim Y, King R, Koh Y, Kook S, Kuperman S, Leventhal B, Madruga-Garrido M, Mir P, Morer A, Münchau A, Plessen K, Roessner V, Shin E, Song D, Song J, Tischfield J, Willsey A, Zinner S, Aschauer H, Barr C, Barta C, Batterson J, Berlin C, Brown L, Budman C, Cath D, Coffey B, Coppola G, Cox N, Darrow S, Davis L, Depienne C, Dietrich A, Dion Y, Fernandez T, Freimer N, Gilbert D, Grados M, Greenberg E, Hartmann A, Hebebrand J, Heiman G, Hirschtritt M, Hoekstra P, Huang A, Illmann C, Jankovic J, King R, Kuperman S, Lee P, Lyon G, Malaty I, Mathews C, McMahon W, Müller-Vahl K, Nagy P, Neale B, Nöthen M, Okun M, Osiecki L, Paschou P, Rizzo R, Robertson M, Rouleau G, Sandor P, Scharf J, Schlögelhofer M, Singer H, Stamenkovic M, Stuhrmann M, Sul J, Tarnok Z, Tischfield J, Tsetsos F, Willsey A, Woods D, Worbe Y, Yu D, Zinner S. Synaptic processes and immune-related pathways implicated in Tourette syndrome. Translational Psychiatry 2021, 11: 56. PMID: 33462189, PMCID: PMC7814139, DOI: 10.1038/s41398-020-01082-z.Peer-Reviewed Original ResearchConceptsLigand-gated ion channelsGene setsCell adhesionGenome-wide analysisComplex genetic architectureGenome-wide genotypic dataIon channelsSet of genesIndividual-level genotype dataSignificant gene setsAncestry-matched controlsParticular cell typeGenetic architectureImmune-related pathwaysSignaling processesGenotypic dataMAGMA analysisGenotype dataCell typesGenesIndication of involvementTS pathogenesisAdhesion moleculesGlial functionNew insights
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
2014
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette’s Syndrome and OCD
Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert DL, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL. Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette’s Syndrome and OCD. American Journal Of Psychiatry 2014, 172: 82-93. PMID: 25158072, PMCID: PMC4282594, DOI: 10.1176/appi.ajp.2014.13101306.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSingle nucleotide polymorphismsPolygenic score analysisGene expression levelsGenetic architecturePhenotypic varianceCombined genome-wide association studyFunctional variantsPolygenic componentPolygenic signalSignificant polygenic componentExpression levelsGWAS summary statisticsAncestry-matched controlsBrain gene expression levelsComplex genetic relationshipsHeritable neurodevelopmental disorderTrue functional variantsParent-child triosGWAS signalsIndividual single nucleotide polymorphismsWide analysisGenetic variationUnderlying genetic susceptibilityAssociation studies
2012
Genome-wide association study of Tourette's syndrome
Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff R, Wagner M, Moessner R, Mirel D, Posthuma D, Sabatti C, Eskin E, Conti D, Knowles J, Ruiz-Linares A, Rouleau G, Purcell S, Heutink P, Oostra B, McMahon W, Freimer N, Cox N, Pauls D. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry 2012, 18: 721-728. PMID: 22889924, PMCID: PMC3605224, DOI: 10.1038/mp.2012.69.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAttention Deficit Disorder with HyperactivityCase-Control StudiesChromosomes, Human, Pair 9FemaleFibrillar CollagensGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansInternational CooperationMaleMeta-Analysis as TopicObsessive-Compulsive DisorderPolymorphism, Single NucleotideTourette SyndromeWhite PeopleYoung AdultConceptsGenome-wide association studiesFirst genome-wide association studyAssociation studiesTop signalsFull genetic architectureAncestry-matched controlsEuropean ancestry samplesGenetic architectureGWAS dataComplex inheritanceEuropean-derived populationsSusceptibility variantsSusceptibility genesEventual identificationEuropean ancestryCosta RicaChromosome 9q32Familial recurrence rateNorth AmericaComplete understandingAmerican populationCentral ValleyNeuropsychiatric diseasesDevelopmental disordersGenes