Please use this identifier to cite or link to this item: http://repositorio.unifesp.br/handle/11600/38051
Title: Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study
Authors: 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
Rosario, 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
Gruenblatt, 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. [UNIFESP]
Samuels, Jack
Sandor, Paul
Sheppard, Brooke
Singer, Harvey S.
Smit, Jan H.
Stein, Dan J.
Tischrield, Jay A.
Vallada, Homero
Veenstra-VanderWeele, Jeremy
Walitza, Susanne
Wang, Ying
Wendfand, 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.
Massachusetts Gen Hosp
Univ British Columbia
Amer Univ
Brigham & Womens Hosp
Harvard Brood Inst
Univ Toronto
Hosp Sick Children
Univ Hlth Network
Ctr Addict & Mental Hlth
Univ Chicago
Universidade de São Paulo (USP)
Univ Vita Salute Son Raffaele
Hadassah Hebrew Univ
Johns Hopkins Univ
Univ Iowa
Yale Univ
North Shore Long Isl Jewish Med Ctr
Hofstra Univ
NYU
Inst Nacl Psiquiatria Ramon Fuente Muniz
Univ Utrecht
Vrije Univ Amsterdam Med Ctr
Vrije Univ Amsterdam
Osped San Raffoe
Univ Montreal
Robert Debre Univ Hosp
French Notional Sci Fdn
Inst Pasteur
Inst Mondor Rech Biomed
Netherlands Inst Neurosci
Univ Amsterdam
Universidade Federal de São Paulo (UNIFESP)
Universidade Federal da Bahia (UFBA)
Univ New S Wales
Univ Munich
Hosp Nacl Ninos Dr Carlos Saenz Herrera
Clin Herrera Amighetti
Univ Med Greifswald
Brown Med Sch
Shoare Zedek Med Ctr
Univ Zurich
Univ Wurzburg
Rutgers State Univ
Baylor Coll Med
Atlant Neurosci Inst
Corracci Med Grp
Univ Bonn
Univ Stellenbosch
Univ Calif San Francisco
Cold Spring Harbor Lab
Univ Calif Irvine
Univ Calif Los Angeles
Univ Utah
NIMH
Med City Dallas Hosp
Zilkho Neurogenet Inst
Sunnybrook Hlth Sci Ctr
UCL
Wayne State Univ
Detroit Med Ctr
Montreal Neurol Inst
Univ Cologne
Univ Cape Town
Vanderbilt Univ
Erasmus MC
German Ctr Neurodegenerat Dis
VU Med Ctr Amsterdam
VU Amsterdam & Erasmus Univ
Univ Michigan
Univ Illinois
Keywords: Tourette syndrome
obsessive-compulsive disorder
copy number variation
genetics
16p13.11
Issue Date: 1-Aug-2014
Publisher: Elsevier B.V.
Citation: Journal of the American Academy of Child and Adolescent Psychiatry. Amsterdam: Elsevier B.V., v. 53, n. 8, p. 910-919, 2014.
Abstract: Objective: Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. 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.
URI: http://repositorio.unifesp.br/handle/11600/38051
ISSN: 0890-8567
Other Identifiers: http://dx.doi.org/10.1016/j.jaac.2014.04.022
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