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The Structure of Genetic and Environmental Risk Factors for Dimensional Representations of DSM-5 Obsessive-Compulsive Spectrum Disorders
Abstract
IMPORTANCE: The new DSM-5 "Obsessive-Compulsive and Related Disorders" chapter contains a series of conditions thought to be etiologically related to obsessive-compulsive disorder (OCD). However, the evidence to support this relatedness remains incomplete. OBJECTIVE: To estimate the degree to which genetic and environmental risk factors are shared and/or unique to dimensionally scored OCD, body dysmorphic disorder (BDD), hoarding disorder (HD), trichotillomania (hair-pulling disorder) (TTM), and excoriation (skin-picking) disorder (SPD). DESIGN, SETTING, AND PARTICIPANTS: Multivariate twin modeling methods involving 5409 female members of the TwinsUK adult population-based twin register. MAIN OUTCOMES AND MEASURES: Scores on the Obsessive-Compulsive Inventory-Revised, the Dysmorphic Concern Questionnaire, the Hoarding Rating Scale, the Massachusetts General Hospital Hairpulling Scale, and the Skin Picking Scale. RESULTS: A 2-latent factor common pathway model fitted the data best; the first latent factor loaded on all 5 phenotypes, particularly on OCD, BDD, and HD. A second factor loaded exclusively on TTM and SPD. Disorder-specific genetic (for OCD, BDD, and HD only) and particularly nonshared environmental risk factors were also evident. Shared environmental influences were negligible. CONCLUSIONS AND RELEVANCE: Obsessive-compulsive and related disorders may be influenced by 2 distinct liability factors rather than a single liability factor. One of these factors was common to all disorders, and another was exclusive to TTM and SPD. Disorder-specific genetic factors unique to OCD, BDD, and HD were also apparent, whereas TTM and SPD were largely influenced by the same latent genetic factor. Environmental influences were largely disorder specific. The results help explain the apparent similarities as well as some important differences between the disorders included in the new Obsessive-Compulsive and Related Disorders chapter.
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“The common single nucleotide polymorphism heritability of OCD has been estimated to be 28% in meta-analyses (18), whereas the overall heritability is reported to be 40% to 50% (19–24).”
From Maternal Effects as Causes of Risk for Obsessive-Compulsive Disorder (2020) · cites this paper as [24]
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Stein, M. B., Keough, M. E., & Roy‐Byrne, P. (2017) · Oxford University Press eBooks · doi:10.1093/med/9780190681425.003.0032
de la Cruz, L. F., & Mataix‐Cols, D. (2018) · Cambridge University Press eBooks · doi:10.1017/9781108164313.026
Self-citationCampos-Martín, R., Bey, K., Elsner, B., Reuter, B., Klawohn, J., Philipsen, A., Kathmann, N., Wagner, M., & Ramı́rez, A. (2023) · medRxiv · doi:10.1101/2023.02.15.23285944
Pardo, M., Sandín, B., Valiente, R. M., & Chorot, P. (2023) · Revista de Psicopatología y Psicología Clínica · doi:10.5944/rppc.31598 · Cited by 1
Hu, X., Zhang, D., Teng, C., Xu, Y., Tian, L., Cao, P., Wang, X., Li, Z., & Guan, C. (2024) · Research Square · doi:10.21203/rs.3.rs-3800720/v1
Obsessive-Compulsive and Related Disorders
Salvi, J. D., Ipek, S. I., Keuthen, N. J., Dougherty, D. D., Jenike, M. A., Wilhelm, S., & Zakhary, L. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-11844-9.00032-1
The impact of childhood abuse on patients with obsessive–compulsive disorder: an Egyptian study
Raya, Y., Sehlo, M. G., Mahdy, R. S., Kotb, H. M., & Ibrahim, A. (2024) · Middle East Current Psychiatry · doi:10.1186/s43045-024-00447-0
Phillips, K. A., Rodríguez, C. I., Harding, K. J. K., Fallon, B. A., & Stein, D. J. (2024) · Springer eBooks · doi:10.1007/978-3-030-51366-5_24 · Cited by 2
Pato, M. T., Arnold, P. D., Zohar, J., Bitan, S., Klein, K. P., & Eisen, J. L. (2024) · Springer eBooks · doi:10.1007/978-3-030-51366-5_23
Das Störungsbild der körperdysmorphen Störung
Ritter, V., & Stangier, U. (2024) · Psychotherapie: Praxis · doi:10.1007/978-3-662-68379-8_2
Comorbidity and Differential Diagnosis
Kelly, M. M., Mroz, P. J., & Dempsey, A. (2024) · CBT: science into practice · doi:10.1007/978-3-031-65339-1_2
Körperbezogene repetitive Verhaltensstörungen
Moritz, S., Jelinek, L., Schmotz, S., & Hoyer, L. N. (2024) · PPmP - Psychotherapie · Psychosomatik · Medizinische Psychologie · doi:10.1055/a-2231-7847
The Role of Epigenetics in the Pathogenesis and Potential Treatment of Obsessive-compulsive Disorder
Peedicayil, J. (2025) · Current Neuropharmacology · doi:10.2174/011570159x347479241024120728 · Cited by 2
“Population-based [17], family-based [18], and twin-based [19] studies have shown that both genetic and environmental factors contribute to the pathogenesis of OCD.”
Wenzhu, C. A. I., Jingqi, W. A. N. G., & Chen, J. (2025) · SSRN Electronic Journal · doi:10.2139/ssrn.5221616
Self-Inflicted Pathology of Hair and Scalp
Ovcharenko, Y. S., Lortkipanidze, N., & Rudnicka, L. (2025) · Springer eBooks · doi:10.1007/978-3-031-64083-4_5
Obsessive-compulsive disorder with hoarding behavior: unravelling key differences
de Mattos, C. N., Cooke, M. E., Whiteman, C., & Pato, M. T. (2025) · Psychiatry Research · doi:10.1016/j.psychres.2025.116640
Metadata
- Authors
- Monzani, B., Rijsdijk, F., Harris, J., & Mataix-Cols, D.
- Affiliations
- King's College London (GB)
- Social, Genetic & Developmental Psychiatry Research Centre, King’s College London, Institute of Psychiatry, London, England
- Department of Psychosis Studies, King’s College London, Institute of Psychiatry, London, England4Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden
- Corresponding author
- Monzani, Benedetta
- Venue
- JAMA Psychiatry
- Publisher
- American Medical Association (AMA)
- Published
- 2014-02-01
- Volume
- 71
- Issue
- 2
- Pages
- 182
- ISSN
- 2168-622X (ISSN-L)
- OpenAlex
- W2167478915
- Cited by
- 208
- References
- 57
- Citations by year
- 2026: 7 · 2025: 14 · 2024: 23 · 2023: 22 · 2022: 19 · 2021: 20 · 2020: 21 · 2019: 11 · 2018: 9 · 2017: 19 · 2016: 15 · 2015: 19 · 2014: 9
- FWCI
- 15.93
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- JAMA Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Research Portal (King's College London) (submittedVersion)
- Funders
- Wellcome Trust
- National Institute for Health and Care Research
- Topics
- Social Sciences › Psychology › Clinical Psychology › Obsessive-Compulsive Spectrum Disorders
- Social Sciences › Psychology › Clinical Psychology › Body Image and Dysmorphia Studies
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes
- Keywords
- obsessive-compulsive spectrum disorders, obsessive-compulsive disorder, body dysmorphic disorder, hoarding disorder, trichotillomania, excoriation disorder, genetic risk factors, nonshared environment, shared environment, twin studies, DSM-5
- MeSH terms
- Hoarding Disorder, Adolescent, Adult, Aged, Aged, 80 and over, Diseases in Twins, Factor Analysis, Statistical, Female, United Kingdom, Humans, Middle Aged, Obsessive-Compulsive Disorder, Registries, Risk Factors, Trichotillomania, Self-Injurious Behavior, Principal Component Analysis, Diagnostic and Statistical Manual of Mental Disorders, Young Adult, Body Dysmorphic Disorders, Gene-Environment Interaction
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