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Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C; Tourette International Collaborative Genetics (TIC Genetics); Bal VH, Langley K, Martin J, Hoekstra PJ, Dietrich A, Xing J, Heiman GA, Tischfield JA, Fernandez TV, Owen MJ, O'Donovan MC, Thapar A, State MW, Willsey AJ. Wang S, et al. Nat Commun. 2023 Dec 6;14(1):8077. doi: 10.1038/s41467-023-43776-0. Nat Commun. 2023. PMID: 38057346 Free PMC article.
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 KR, Cath DC, Boomsma DI, Wolanczyk T, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Padmanabhuni SS, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Yannaki E, Stamatoyannopoulos JA, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Mir P, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Roessner V, Walitza S, Schrag A, Martino D; PGC TS Working Group; TSAICG; TSGeneSEE Initiative; EMTICS Collaborative Group; TS-EUROTRAIN Network; TIC Genetics Collaborative Group; Tischfield JA, Heiman GA, Willsey AJ, Dietrich A, Davis LK, Crowley JJ, Mathews CA, Scharf JM, Georgitsi M, Hoekstra PJ, Paschou P. Tsetsos F, et al. Biol Psychiatry. 2023 Feb 2:S0006-3223(23)00051-3. doi: 10.1016/j.biopsych.2023.01.023. Online ahead of print. Biol Psychiatry. 2023. PMID: 36738982
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study (TIC Genetics); Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE); Tourette Association of America International Consortium for Genetics (TAAICG); Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW. Wang S, et al. Cell Rep. 2018 Sep 25;24(13):3441-3454.e12. doi: 10.1016/j.celrep.2018.08.082. Cell Rep. 2018. PMID: 30257206 Free PMC article.
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.
Abdulkadir M, Londono D, Gordon D, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, Elzerman L, Fremer C, Fründt O, Garcia-Delgar B, Gilbert DL, Grice DE, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Jakubovski E, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Leventhal B, Ludolph AG, Madruga-Garrido M, Maras A, Mir P, Morer A, Müller-Vahl K, Münchau A, Murphy TL, Plessen KJ, Roessner V, Shin EY, Song DH, Song J, Tübing J, van den Ban E, Visscher F, Wanderer S, Woods M, Zinner SH, King RA, Tischfield JA, Heiman GA, Hoekstra PJ, Dietrich A. Abdulkadir M, et al. Eur Arch Psychiatry Clin Neurosci. 2018 Apr;268(3):301-316. doi: 10.1007/s00406-017-0808-8. Epub 2017 May 29. Eur Arch Psychiatry Clin Neurosci. 2018. PMID: 28555406 Free PMC article.