McGrath, Lauren M., Yu, Dongmei, Marshall, Christian, Davis, Lea K., Thiruvahindrapuram, Bhooma, Li, Bingbin, Cappi, Carolina ORCID: 0000-0001-6661-3756, 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 ORCID: 0000-0001-7737-501X, Cath, Danielle C., Cavallini, Maria C., Chouinard, Sylvain, Coric, Vladimir, Cullen, Bernadette, Delorme, Richard ORCID: 0000-0002-5614-3663, Denys, Damiaan, Derks, Eske M., Dion, Yves, Rosario, Maria C., Eapen, Valsama, Evans, Patrick, Falkai, Peter ORCID: 0000-0003-2873-8667, 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 ORCID: 0000-0001-6769-6813, Leboyer, Marion, Leckman, James F., Lennertz, Leonhard, Lochner, Christine, Lowe, Thomas L., Lyon, Gholson J., Macciardi, Fabio ORCID: 0000-0003-0537-4266, Maier, Wolfgang, McCracken, James T., McMahon, William, Murphy, Dennis L., Naarden, Allan L., Neale, Benjamin M., Nurmi, Erika ORCID: 0000-0003-4893-8957, Pakstis, Andrew J., Pato, Michele T., Pato, Carlos N., Piacentini, John, Pittenger, Christopher, Pollak, Yehuda ORCID: 0000-0002-1293-499X, Reus, Victor I., Richter, Margaret A., Riddle, Mark, Robertson, Mary M., Rosenberg, David, Rouleau, Guy A., Ruhrmann, Stephan ORCID: 0000-0002-6022-2364, Sampaio, Aline S., Samuels, Jack ORCID: 0000-0002-6715-7905, Sandor, Paul ORCID: 0000-0003-2397-0758, Sheppard, Brooke, Singer, Harvey S., Smit, Jan H., Stein, Dan J., Tischrield, Jay A., Vallada, Homero ORCID: 0000-0001-5123-8295, Veenstra-VanderWeele, Jeremy ORCID: 0000-0002-6349-1076, Walitza, Susanne ORCID: 0000-0002-8161-8683, Wang, Ying, Wendfand, Jens R., Shugart, Yin Yao, Miguel, Euripedes C., Nicolini, Humberto, Oostra, Ben A., Moessner, Rainald, Wagner, Michael ORCID: 0000-0003-2589-6440, Ruiz-Linares, Andres, Heutink, Peter ORCID: 0000-0001-5218-1737, Nestadt, Gerald, Freimer, Nelson, Petryshen, Tracey ORCID: 0000-0002-7972-4612, Posthuma, Danielle ORCID: 0000-0001-7582-2365, Jenike, Michael A., Cox, Nancy J., Hanna, Gregory L., Brentani, Helena ORCID: 0000-0001-5192-4682, Scherer, Stephen W., Arnold, Paul D., Stewart, S. Evelyn ORCID: 0000-0002-0994-6383, Mathews, Carol A., Knowles, James A., Cook, Edwin H., Pauls, David L., Wang, Kai and Scharf, Jeremiah M. (2014). Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study. J. Am. Acad. Child Adolesc. Psychiatr., 53 (8). S. 910 - 920. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1527-5418

Full text not available from this repository.

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
McGrath, Lauren M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yu, DongmeiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marshall, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Davis, Lea K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiruvahindrapuram, BhoomaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Li, BingbinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cappi, CarolinaUNSPECIFIEDorcid.org/0000-0001-6661-3756UNSPECIFIED
Gerber, GloriaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wolf, AaronUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schroeder, Frederick A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Osiecki, LisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
O'Dushlaine, ColmUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kirby, AndrewUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Illmann, CorneliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haddad, StephenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gallagher, PatienceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fagerness, Jesen A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barr, Cathy L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bellodi, LauraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benarroch, FortuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bienvenu, O. JosephUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Black, Donald W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bloch, Michael H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bruun, Ruth D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Budman, Cathy L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Camarena, BeatrizUNSPECIFIEDorcid.org/0000-0001-7737-501XUNSPECIFIED
Cath, Danielle C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cavallini, Maria C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chouinard, SylvainUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Coric, VladimirUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cullen, BernadetteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Delorme, RichardUNSPECIFIEDorcid.org/0000-0002-5614-3663UNSPECIFIED
Denys, DamiaanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Derks, Eske M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dion, YvesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rosario, Maria C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eapen, ValsamaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Evans, PatrickUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Falkai, PeterUNSPECIFIEDorcid.org/0000-0003-2873-8667UNSPECIFIED
Fernandez, Thomas V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garrido, HelenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Geller, DanielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grabe, Hans J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grados, Marco A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Greenberg, Benjamin D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gross-Tsur, VardaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gruenblatt, EdnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heiman, Gary A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hemmings, Sian M. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herrera, Luis D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hounie, Ana G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jankovic, JosephUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kennedy, James L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
King, Robert A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kurlan, RogerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lanzagorta, NuriaUNSPECIFIEDorcid.org/0000-0001-6769-6813UNSPECIFIED
Leboyer, MarionUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leckman, James F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lennertz, LeonhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lochner, ChristineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lowe, Thomas L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lyon, Gholson J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Macciardi, FabioUNSPECIFIEDorcid.org/0000-0003-0537-4266UNSPECIFIED
Maier, WolfgangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McCracken, James T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McMahon, WilliamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Murphy, Dennis L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Naarden, Allan L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neale, Benjamin M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nurmi, ErikaUNSPECIFIEDorcid.org/0000-0003-4893-8957UNSPECIFIED
Pakstis, Andrew J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pato, Michele T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pato, Carlos N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Piacentini, JohnUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pittenger, ChristopherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pollak, YehudaUNSPECIFIEDorcid.org/0000-0002-1293-499XUNSPECIFIED
Reus, Victor I.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Richter, Margaret A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riddle, MarkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Robertson, Mary M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rosenberg, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rouleau, Guy A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ruhrmann, StephanUNSPECIFIEDorcid.org/0000-0002-6022-2364UNSPECIFIED
Sampaio, Aline S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Samuels, JackUNSPECIFIEDorcid.org/0000-0002-6715-7905UNSPECIFIED
Sandor, PaulUNSPECIFIEDorcid.org/0000-0003-2397-0758UNSPECIFIED
Sheppard, BrookeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Singer, Harvey S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Smit, Jan H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stein, Dan J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tischrield, Jay A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vallada, HomeroUNSPECIFIEDorcid.org/0000-0001-5123-8295UNSPECIFIED
Veenstra-VanderWeele, JeremyUNSPECIFIEDorcid.org/0000-0002-6349-1076UNSPECIFIED
Walitza, SusanneUNSPECIFIEDorcid.org/0000-0002-8161-8683UNSPECIFIED
Wang, YingUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wendfand, Jens R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shugart, Yin YaoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Miguel, Euripedes C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nicolini, HumbertoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Oostra, Ben A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moessner, RainaldUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wagner, MichaelUNSPECIFIEDorcid.org/0000-0003-2589-6440UNSPECIFIED
Ruiz-Linares, AndresUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heutink, PeterUNSPECIFIEDorcid.org/0000-0001-5218-1737UNSPECIFIED
Nestadt, GeraldUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Freimer, NelsonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Petryshen, TraceyUNSPECIFIEDorcid.org/0000-0002-7972-4612UNSPECIFIED
Posthuma, DanielleUNSPECIFIEDorcid.org/0000-0001-7582-2365UNSPECIFIED
Jenike, Michael A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cox, Nancy J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hanna, Gregory L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brentani, HelenaUNSPECIFIEDorcid.org/0000-0001-5192-4682UNSPECIFIED
Scherer, Stephen W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arnold, Paul D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stewart, S. EvelynUNSPECIFIEDorcid.org/0000-0002-0994-6383UNSPECIFIED
Mathews, Carol A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knowles, James A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cook, Edwin H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pauls, David L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, KaiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scharf, Jeremiah M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-433377
DOI: 10.1016/j.jaac.2014.04.022
Journal or Publication Title: J. Am. Acad. Child Adolesc. Psychiatr.
Volume: 53
Number: 8
Page Range: S. 910 - 920
Date: 2014
Publisher: ELSEVIER SCIENCE INC
Place of Publication: NEW YORK
ISSN: 1527-5418
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENOME-WIDE ASSOCIATION; DE-NOVO CNVS; 16P13.11 PREDISPOSE; VARIANTS; DUPLICATIONS; DELETIONS; GENETICS; SPECTRUM; TICSMultiple languages
Psychology, Developmental; Pediatrics; PsychiatryMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/43337

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