The genetic epidemiology of obsessive-compulsive disorder: a systematic review and meta-analysis.
- Authors
- Blanco-Vieira, Thiago; Radua, Joaquim; Marcelino, Lívia; Bloch, Michael; Mataix-Cols, David; do Rosário, Maria Conceição
- Year
- 2023
- Journal
- Translational psychiatry
- PMID
- 37380645
- DOI
- 10.1038/s41398-023-02433-2
- PMCID
- PMC10307810
The first systematic review and meta-analysis of obsessive-compulsive disorder (OCD) genetic epidemiology was published approximately 20 years ago. Considering the relevance of all the studies published since 2001, the current study aimed to update the state-of-art knowledge on the field. All published data concerning the genetic epidemiology of OCD from the CENTRAL, MEDLINE, EMBASE, BVS, and OpenGrey databases were searched by two independent researchers until September 30, 2021. To be included, the articles had to fulfill the following criteria: OCD diagnosis provided by standardized and validated instruments; or medical records; inclusion of a control group for comparison and case-control, cohort or twin study designs. The analysis units were the first-degree relatives (FDRs) of OCD or control probands and the co-twins in twin pairs. The outcomes of interest were the familial recurrence rates of OCD and the correlations of OCS in monozygotic compared with dizygotic twins. Nineteen family, twenty-nine twin, and six population-based studies were included. The main findings were that OCD is a prevalent and highly familial disorder, especially among the relatives of children and adolescent probands, that OCD has a phenotypic heritability of around 50%; and that the higher OCS correlations between MZ twins were mainly due to additive genetic or to non-shared environmental components.
PRISMA flow diagram.From the 4022 studies screened, 19 family studies and 29 twin studies were selected for the systematic review and meta-analysis.
LLM interpretation
This is a PRISMA flow diagram illustrating the study selection process for a systematic review and meta-analysis. It tracks the flow of records from initial identification (n=4022 after duplicates removed) through screening (n=4009) and eligibility assessment (n=95). The final selection includes 19 family studies and 29 twin studies for quantitative synthesis, incorporating additional records identified through other sources.
Definite OCD prevalence.First-degree relatives of OCD probands had odds ratio of 7.18 (95% CI 4.13–12.47, p < 0.00001) for definite OCD in comparison to controls.
LLM interpretation
This is a forest plot showing the odds ratio (OR) for definite OCD prevalence in first-degree relatives of OCD probands compared to controls. The data is stratified by age group (Children/adolescents and Adults), with individual study results and subgroup totals represented by squares and diamonds. The overall pooled odds ratio is 7.18 (95% CI 4.13–12.47), indicating a statistically significant increase in prevalence (p < 0.00001).
Definite/subthreshold OCD prevalence.First-degree relatives of definite and subthreshold OCD probands had 4.6-times higher risk of OC symptoms compared to controls.
LLM interpretation
This is a forest plot showing the odds ratio (OR) for obsessive-compulsive (OC) symptoms in first-degree relatives of OCD probands compared to controls across eight studies. All individual studies and the overall total show an increased risk (OR > 1), with a pooled odds ratio of 4.06 (95% CI: 2.91, 5.66). The overall effect is statistically significant (p < 0.01), with no observed heterogeneity among the studies ($I^2 = 0\%$).
Age of onset.Only four samples remained for OCD family recurrence rate statistical analysis. The studies showed a high heterogeneity for the analyzed outcome.
LLM interpretation
This is a forest plot analyzing the odds ratio (OR) for age of onset across four studies (Pauls 1995, Nestadt 2000, Fyer 2005, and Chabane 2005). The plot compares "Rel. early" versus "Rel. late" onset, showing a pooled OR of 4.50 (95% CI: 1.07, 18.89), indicating a statistically significant overall effect (p = 0.04). High heterogeneity is noted among the studies, with $I^2 = 71\%$ and $p = 0.02$.
Monozigotic twin OCS resemblance.OCS coccurrence rate in monozigotic twin pairs was about 47%.
LLM interpretation
This is a forest plot showing the OCD concordance rates in monozygotic twin pairs, stratified by age groups (Children/adolescents and Adults). The plot displays individual study results with confidence intervals, showing a subtotal concordance of 0.50 (95% CI: 0.39, 0.60) for children/adolescents and 0.45 (95% CI: 0.40, 0.49) for adults. The overall pooled concordance rate is 0.46 (95% CI: 0.41, 0.51), with a test for subgroup differences indicating no significant difference between the two age groups (p = 0.40).
Dizogotic twin OCS resemblance.OCS cooccurence rate between dizigotic twin pairs was about 23%.
LLM interpretation
This is a forest plot showing the OCD concordance rates between dizygotic twin pairs, stratified by age group (Children/adolescents and Adults). The plot displays individual study effect sizes (COR) with 95% confidence intervals, with subtotal and total pooled estimates represented by diamonds. The total pooled concordance rate is 0.19 (95% CI: 0.14, 0.23), with both subgroups showing statistically significant effects (p < 0.01).
Fisher Z-score between monozigotic and dizogotic twins.MZ twins has considerably higher correlations for OCS than DZ twins.
LLM interpretation
This is a forest plot comparing the Fisher Z-scores of correlations for OCS between monozygotic (rMZ) and dizygotic (rDZ) twins across multiple studies. The data is categorized into two subgroups: "Children / adolescents" and "Adults," with both subgroups and the overall total showing a positive difference (Diff Z) that is statistically significant (p < 0.01). The plot includes individual study effect sizes with 95% confidence intervals, weights, and pooled subtotal estimates represented by black squares.
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| Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder. | 2025 | 40360802 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Identifying neuroimaging-based biomarkers for obsessive-compulsive disorder: A resting-state fMRI and machine learning study in patients and unaffected first-degree relatives. | Suo X et al. | — | 2026 | → |
| Polygenic risk scores for pediatric obsessive-compulsive symptoms: Mediating effects in samples clinically diagnosed with mental disorders. | Antonyan L et al. | — | 2026 | → |
| A burden of rare copy number variants in obsessive-compulsive disorder. | Halvorsen MW et al. | — | 2025 | → |
| A Population-Based Multigenerational Family Coaggregation Study of Severe Infections and Obsessive-Compulsive Disorder. | Pol-Fuster J et al. | — | 2025 | → |
| Association between bullying victimization and obsessive-compulsive disorder: a population-based, genetically informative study. | Pol-Fuster J et al. | — | 2025 | → |
| Association Between Polygenic Risk and Symptom Severity Change After Cognitive Behavioral Therapy for Obsessive-Compulsive Disorder. | Bäckman J et al. | — | 2025 | → |
| Biological, Psychosocial, and Microbial Determinants of Childhood-Onset Obsessive-Compulsive Disorder: A Narrative Review. | Borrego-Ruiz A et al. | — | 2025 | → |
| Decision-making using the Iowa gambling test in unaffected first-degree relatives of obsessive-compulsive disorder: Comparison with healthy controls and patients with obsessive-compulsive disorder. | Murayama K et al. | — | 2025 | → |
| Evaluating Treatment Outcomes of Vitamin B12 and Folic Acid Supplementation in Obsessive-Compulsive Disorder Patients With Deficiencies: A Comparative Analysis. | Algin S et al. | — | 2025 | → |
| Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder. | Strom NI et al. | — | 2025 | → |
| Hereditary Patterns and Genetic Associations in Obsessive-Compulsive Disorder (OCD): Neuropsychiatric Insights, Genetic Influences, and Treatment Perspectives. | Dhiman A et al. | — | 2025 | → |
| Innovative treatment approaches for paediatric obsessive-compulsive disorder. | Marazziti D et al. | — | 2025 | → |
| Multigenerational family coaggregation study of obsessive-compulsive disorder and cardiometabolic disorders. | Holmberg A et al. | — | 2025 | → |
| Obsessive-Compulsive Symptoms and Its Association with Psychological Strain Among Chinese University Students | Chen Z et al. | — | 2025 | — |
| Psychiatric genetics in the diverse landscape of Latin American populations. | Bruxel EM et al. | — | 2025 | → |
| Shorter telomere length in obsessive-compulsive disorder: another evidence of neuroprogression? | Kohlrausch FB et al. | — | 2025 | → |
| The risk factors of obsessive-compulsive disorder: a cross-sectional study in Southwestern China. | Chen H et al. | — | 2025 | → |
| Association between severe childhood infections and subsequent risk of OCD is largely explained by shared familial factors. | Pol-Fuster J et al. | — | 2024 | → |
| Autistic Traits as Predictors of Increased Obsessive-Compulsive Disorder Severity: The Role of Inflexibility and Communication Impairment. | Dell'Osso L et al. | — | 2024 | → |
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| Prevalence of obsessive-compulsive symptoms among adult population in primary care centers in Bahrain - A cross-sectional study. | Alsaweer AA et al. | — | 2024 | → |