Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.
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McGrath Lauren M, Yu Dongmei, Marshall Christian, Davis Lea K, Thiruvahindrapuram Bhooma, Li Bingbin, Cappi Carolina, Gerber Gloria, Wolf Aaron, Schroeder Frederick A, Osiecki Lisa, O'Dushlaine Colm, Kirby Andrew, Illmann Cornelia, Haddad Stephen, Gallagher Patience, Fagerness Jesen A, Barr Cathy L, Bellodi Laura, Benarroch Fortu, Bienvenu O Joseph, Black Donald W, Bloch Michael H, Bruun Ruth D, Budman Cathy L, Camarena Beatriz, Cath Danielle C, Cavallini Maria C, Chouinard Sylvain, Coric Vladimir, Cullen Bernadette, Delorme Richard, Denys Damiaan, Derks Eske M, Dion Yves, Rosário Maria C, Eapen Valsama, Evans Patrick, Falkai Peter, Fernandez Thomas V, Garrido Helena, Geller Daniel, Grabe Hans J, Grados Marco A, Greenberg Benjamin D, Gross-Tsur Varda, Grünblatt Edna, Heiman Gary A, Hemmings Sian M J, Herrera Luis D, Hounie Ana G, Jankovic Joseph, Kennedy James L, King Robert A, Kurlan Roger, Lanzagorta Nuria, Leboyer Marion, Leckman James F, Lennertz Leonhard, Lochner Christine, Lowe Thomas L, Lyon Gholson J, Macciardi Fabio, Maier Wolfgang, McCracken James T, McMahon William, Murphy Dennis L, Naarden Allan L, Neale Benjamin M, Nurmi Erika, Pakstis Andrew J, Pato Michele T, Pato Carlos N, Piacentini John, Pittenger Christopher, Pollak Yehuda, Reus Victor I, Richter Margaret A, Riddle Mark, Robertson Mary M, Rosenberg David, Rouleau Guy A, Ruhrmann Stephan, Sampaio Aline S, Samuels Jack, Sandor Paul, Sheppard Brooke, Singer Harvey S, Smit Jan H, Stein Dan J, Tischfield Jay A, Vallada Homero, Veenstra-VanderWeele Jeremy, Walitza Susanne, Wang Ying, Wendland Jens R, Shugart Yin Yao, Miguel Euripedes C, Nicolini Humberto, Oostra Ben A, Moessner Rainald, Wagner Michael, Ruiz-Linares Andres, Heutink Peter, Nestadt Gerald, Freimer Nelson, Petryshen Tracey, Posthuma Danielle, Jenike Michael A, Cox Nancy J, Hanna Gregory L, Brentani Helena, Scherer Stephen W, Arnold Paul D, Stewart S Evelyn, Mathews Carol A, Knowles James A, Cook Edwin H, Pauls David L, Wang Kai, Scharf Jeremiah M
Аннотация
METHOD: The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios.
RESULTS: Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p = .09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p = .08 in the current study, p = .025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%).
CONCLUSION: Several converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes.