A review of the role of serotonin system genes in obsessive-compulsive disorder
Abstract
Obsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder that causes the patient to experience intrusive thoughts and/or to carry out repetitive, ritualized behaviors that are time consuming and impairing. OCD is familial and heritable. The genetic factors responsible for pathogenesis, however, remain largely unknown despite the numerous candidate gene studies conducted. Based on efficacy of serotonin reuptake inhibitors (SRIs) in treating OCD, serotonin system genes have been a dominant focus in OCD candidate gene studies. We review the most commonly studied candidate serotonin system gene variants (specifically in SLC6A4, HTR2A, HTR1B, and HTR2C) and their association with OCD. Although findings to date are mixed, serotonin transporter polymorphism 5-HTTLPR and HTR2A polymorphism rs6311 (or rs6313) are most consistently associated with OCD. Mixed findings may be the result of genetic complexity and phenotypic heterogeneity that future studies should account for. Homogenous patient subgroups reflecting OCD symptom dimensions, OCD subtypes, and sex should be used for gene discovery.
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Serotonin transporter polymorphism 5HTTLPR and HTR2A are most commonly linked to OCD.
“serotonin transporter polymorphism 5HTTLPR and HTR2A are most commonly linked to OCD”
From Obsessive-compulsive disorder: Etiology, neuropathology, and cognitive dysfunction (2023) · cites this paper as Sinopoli et al., 2017
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Obsessive-compulsive disorder: Etiology, neuropathology, and cognitive dysfunction
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“While research to date is inconclusive, serotonin transporter polymorphism 5HTTLPR and HTR2A are most commonly linked to OCD (Sinopoli et al., 2017).”
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Baldini, V., Gnazzo, M., Varallo, G., De Ronchi, D., & Fiorillo, A. (2025) · International Journal of Social Psychiatry · doi:10.1177/00207640251339510 · Cited by 23 · see citing works
- Authors
- Sinopoli, V. M., Burton, C. L., Kronenberg, S., & Arnold, P. D.
- Affiliations
- University of Toronto (CA)
- Hospital for Sick Children (CA)
- University of Calgary (CA)
- Corresponding author
- Arnold, Paul D.
- Venue
- Neuroscience & Biobehavioral Reviews
- Publisher
- Elsevier BV
- Published
- 2017-09
- Volume
- 80
- Pages
- 372-381
- ISSN
- 0149-7634 (ISSN-L)
- OpenAlex
- W2618944769
- Cited by
- 107
- References
- 17
- Citations by year
- 2026: 3 · 2025: 11 · 2024: 9 · 2023: 10 · 2022: 11 · 2021: 17 · 2020: 14 · 2019: 17 · 2018: 10 · 2017: 4
- FWCI
- 1.88
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neuroscience & Biobehavioral Reviews (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Hospital for Sick Children
- Canadian Institutes of Health Research
- Topics
- Social Sciences › Psychology › Clinical Psychology › Obsessive-Compulsive Spectrum Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes
- Keywords
- obsessive-compulsive disorder, candidate gene association, serotonin transporter, HTR2A, 5-HT1B receptor, 5-HT2C receptor, 5-HTTLPR polymorphism, rs6311, serotonin reuptake inhibitors, genetic susceptibility, phenotypic heterogeneity, OCD subtypes
- MeSH terms
- Animals, Humans, Obsessive-Compulsive Disorder, Serotonin, Genetic Predisposition to Disease
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