Copy number variation in obsessive-compulsive disorder and tourette syndrome: A cross-disorder study
Open accessAbstract
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.
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Both genetic and environmental factors contribute to the risk of developing OCD.
“However, both genetic and environmental factors contribute to risk of developing OCD (11–17).”
From Maternal Effects as Causes of Risk for Obsessive-Compulsive Disorder (2020) · cites this paper as [15]
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- Authors
- McGrath, L. M., Yu, D., Marshall, C., Davis, L. K., Thiruvahindrapuram, B., Li, B., Cappi, C., Gerber, G., Wolf, A., Schroeder, F. A., Osiecki, L., O'Dushlaine, C., Kirby, A., Illmann, C., Haddad, S., Gallagher, P., Fagerness, J. A., Barr, C. L., Bellodi, L., Benarroch, F., Bienvenu, O. J., Black, D. W., Bloch, M. H., Bruun, R. D., Budman, C. L., Camarena, B., Cath, D. C., Cavallini, M. C., Chouinard, S., Coric, V., Cullen, B., Delorme, R., Denys, D., Derks, E. M., Dion, Y., Rosário, M. C., Eapen, V., Evans, P., Falkai, P., Fernandez, T. V., Garrido, H., Geller, D., Grabe, H. J., Grados, M. A., Greenberg, B. D., Gross-Tsur, V., Grünblatt, E., Heiman, G. A., Hemmings, S. M. J., Herrera, L. D., Hounie, A. G., Jankovic, J., Kennedy, J. L., King, R. A., Kurlan, R., Lanzagorta, N., Leboyer, M., Leckman, J. F., Lennertz, L., Lochner, C., Lowe, T. L., Lyon, G. J., Macciardi, F., Maier, W., McCracken, J. T., McMahon, W., Murphy, D. L., Naarden, A. L., Neale, B. M., Nurmi, E., Pakstis, A. J., Pato, M. T., Pato, C. N., Piacentini, J., Pittenger, C., Pollak, Y., Reus, V. I., Richter, M. A., Riddle, M., Robertson, M. M., Rosenberg, D., Rouleau, G. A., Ruhrmann, S., Sampaio, A. S., Samuels, J., Sandor, P., Sheppard, B., Singer, H. S., Smit, J. H., Stein, D. J., Tischfield, J. A., Vallada, H., Veenstra-VanderWeele, J., Walitza, S., Wang, Y., Wendland, J. R., Shugart, Y. Y., Miguel, E. C., Nicolini, H., Oostra, B. A., Moessner, R., Wagner, M., Ruiz-Linares, A., Heutink, P., Nestadt, G., Freimer, N., Petryshen, T., Posthuma, D., Jenike, M. A., Cox, N. J., Hanna, G. L., Brentani, H., Scherer, S. W., Arnold, P. D., Stewart, S. E., Mathews, C. A., Knowles, J. A., Cook, E. H., Pauls, D. L., Wang, K., & Scharf, J. M.
- Affiliations
- Broad Institute (US)
- University of Toronto (CA)
- University of Chicago (US)
- Universidade de São Paulo (BR)
- Massachusetts General Hospital (US)
- University Health Network (CA)
- Vita-Salute San Raffaele University (IT)
- Hadassah Medical Center (IL)
- Johns Hopkins University (US)
- University of Iowa (US)
- Yale University (US)
- Northwell Health (US)
- IRCCS Ospedale San Raffaele (IT)
- Université de Montréal (CA)
- Institut Pasteur (FR)
- Netherlands Institute for Neuroscience (NL)
- Amsterdam UMC Location University of Amsterdam (NL)
- Universidade Federal de São Paulo (BR)
- Ludwig-Maximilians-Universität München (DE)
- Hospital Nacional de Niños (CR)
- Universitätsmedizin Greifswald (DE)
- Brown University (US)
- University of Zurich (CH)
- Rutgers, The State University of New Jersey (US)
- Stellenbosch University (ZA)
- Baylor College of Medicine (US)
- Centre for Addiction and Mental Health (CA)
- Hôpital Robert-Debré (FR)
- University of Bonn (DE)
- University of California, San Francisco (US)
- Cold Spring Harbor Laboratory (US)
- University of California, Irvine (US)
- University of California, Los Angeles (US)
- University of Utah (US)
- National Institute of Mental Health (US)
- Medical City Dallas Hospital (US)
- Shaare Zedek Medical Center (IL)
- Sunnybrook Health Science Centre (CA)
- University College London (GB)
- Wayne State University (US)
- Montreal Neurological Institute and Hospital (CA)
- University of Cologne (DE)
- Universidade Federal da Bahia (BR)
- University of Cape Town (ZA)
- Vanderbilt University (US)
- Erasmus MC (NL)
- German Center for Neurodegenerative Diseases (DE)
- University of Michigan (US)
- University of British Columbia (CA)
- University of Illinois Chicago (US)
- Corresponding author
- Scharf, Jeremiah M.
- ORCID
- McGrath, Lauren M.
- Yu, Dongmei
- Marshall, Christian
- Davis, Lea K.
- Thiruvahindrapuram, Bhooma
- Cappi, Carolina
- Gerber, Gloria
- Wolf, Aaron
- Schroeder, Frederick A.
- Osiecki, Lisa
- Barr, Cathy L.
- Bellodi, Laura
- Benarroch, Fortu
- Bienvenu, O. Joseph
- Black, Donald W.
- Bloch, Michael H.
- Cavallini, Maria C.
- Cullen, Bernadette
- Delorme, Richard
- Denys, Damiaan
- Derks, Eske M.
- Dion, Yves
- Rosário, Maria C.
- Evans, Patrick
- Falkai, Peter
- Fernandez, Thomas V.
- Geller, Daniel
- Grabe, Hans J.
- Grados, Marco A.
- Greenberg, Benjamin D.
- Grünblatt, Edna
- Heiman, Gary A.
- Hemmings, Sian M.J.
- Hounie, Ana G.
- Jankovic, Joseph
- Kennedy, James L.
- King, Robert A.
- Lanzagorta, Nuria
- Leboyer, Marion
- Leckman, James F.
- Lyon, Gholson J.
- Macciardi, Fabio
- Maier, Wolfgang
- McCracken, James T.
- McMahon, William
- 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
- Rosenberg, David
- Rouleau, Guy A.
- Ruhrmann, Stephan
- Sampaio, Aline S.
- Samuels, Jack
- Sandor, Paul
- Sheppard, Brooke
- Singer, Harvey S.
- Stein, Dan J.
- Tischfield, Jay A.
- Vallada, Homero
- Veenstra-VanderWeele, Jeremy
- Walitza, Susanne
- Wang, Ying
- Wendland, Jens R.
- Shugart, Yin Yao
- Nicolini, Humberto
- Moessner, Rainald
- Wagner, Michael
- Heutink, Peter
- Nestadt, Gerald
- Freimer, Nelson
- Petryshen, Tracey
- 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.
- Scharf, Jeremiah M.
- Venue
- Journal of the American Academy of Child & Adolescent Psychiatry
- Publisher
- Elsevier BV
- Published
- 2014-08
- Volume
- 53
- Issue
- 8
- Pages
- 910-919
- ISSN
- 0890-8567 (ISSN-L)
- PMC
- PMC4218748
- OpenAlex
- W2170644025
- Cited by
- 141
- References
- 40
- Citations by year
- 2026: 13 · 2025: 7 · 2024: 11 · 2023: 8 · 2022: 11 · 2021: 18 · 2020: 6 · 2019: 15 · 2018: 9 · 2017: 14 · 2016: 10 · 2015: 13 · 2014: 5 · 2012: 1
- FWCI
- 16.44
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of the American Academy of Child & Adolescent Psychiatry (publishedVersion, public-domain)
- PubMed (publishedVersion)
- Kölner Universitäts PublikationsServer (Universität zu Köln) (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- KNAW research portal (Royal Academy of Art and Sciences (KNAW)) (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (submittedVersion, public-domain)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Utrecht University Repository (Utrecht University) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- DZNE Pub (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- KNAW Research Portal (The Royal Netherlands Academy of Arts and Sciences) (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- UNIFESP Institutional Repository (Universidade Federal de São Paulo) (submittedVersion)
- VU Research Portal (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich)
- Funders
- GlaxoSmithKline
- Government of Ontario
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Canadian Institutes of Health Research
- National Institute on Alcohol Abuse and Alcoholism
- Children’s Hospital of Michigan Foundation
- Seventh Framework Programme
- Johns Hopkins University
- Child and Family Research Institute
- Klingenstein Third Generation Foundation
- H. Lundbeck A/S
- International OCD Foundation
- Shire (K08 MH099424-01)
- Ontario Mental Health Foundation (T32MH018268)
- Simons Foundation
- AstraZeneca
- National Institute of Mental Health
- National Institutes of Health (K20MH01065, NS037484, MH073250, P30NS062691, R01MH092293, U01NS40024, R01MH079489, R01MH58376, R01NS16648, K23MH085057, T32MH16259, U01 HG004422, U01HG004438)
- Michael Smith Foundation for Health Research
- JGW Patterson Foundation
- National Institute on Drug Abuse (HHSN268200782096C)
- Tuberous Sclerosis Association
- Pfizer Pharmaceuticals
- Novartis
- Roche
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
- University of British Columbia
- Deutsche Forschungsgemeinschaft (Fa 241/6-1)
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Bundesministerium für Bildung und Forschung
- Topics
- Social Sciences › Psychology › Clinical Psychology › Obsessive-Compulsive Spectrum Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- copy number variation, obsessive-compulsive disorder, Tourette syndrome, de novo copy number variants, neurodevelopmental disorders, large deletions, genetic etiology
- MeSH terms
- Adolescent, Female, Tourette Syndrome, Humans, Male, Obsessive-Compulsive Disorder, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Diagnostic and Statistical Manual of Mental Disorders, Genome-Wide Association Study, DNA Copy Number Variations
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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