Pilot study on HTR2A promoter polymorphism, -1438G/A (rs6311) and a nearby copy number variation showed association with onset and severity in early onset obsessive-compulsive disorder.
- Authors
- Walitza, Susanne; Bové, Daniel Sabanés; Romanos, Marcel; Renner, Tobias; Held, Leonhard; Simons, Michael; Wewetzer, Christoph; Fleischhaker, Christian; Remschmidt, Helmut; Warnke, Andreas; Grünblatt, Edna
- Year
- 2012
- Journal
- Journal of neural transmission (Vienna, Austria : 1996)
- PMID
- 21874579
- DOI
- 10.1007/s00702-011-0699-1
A previous study showed that a single nucleotide polymorphism (SNP), -1438G/A (rs6311), found in the transcriptional control region of the gene that encodes the serotonin-receptor 2A (HTR2A) was associated with obsessive-compulsive disorder (OCD) in a sample of children and adolescents. In this study, we reanalyzed the association of this SNP with OCD in an enlarged population of 136 cases (55 previous + 81 new cases) and compared them to 106 newly recruited, healthy, age-matched controls. We also investigated whether this SNP or its copy number variations (CNV) was associated with OCD severity and age of onset. The CNV was analyzed in a DNA region located near rs6311. The results confirmed the association between the A-allele and early onset OCD in children and adolescents, with an odds ratio (OR) of 1.69 [95% CI (1.17, 2.46); p = 0.005]. Strikingly, we found that carriers of one copy (deletion) of the CNV were associated with a very early onset OCD (2.5 years earlier than the typical onset), and they had increased CY-BOCS scores (8.7 points higher compared to "normal" CNV and duplications); which is related to increased severity of OCD symptoms (p = 0.031; p = 0.004, respectively). Compared to the normal CNV and duplications, the association between the deletion and OCD showed an OR of 7.56 [95% CI (1.32, 142.84); p = 0.020]. These results pointed to the functional importance of this promoter region of HTR2A; it influenced the occurrence, the onset, and the severity of OCD.
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In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. | 2014 | 25062598 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Hereditary Patterns and Genetic Associations in Obsessive-Compulsive Disorder (OCD): Neuropsychiatric Insights, Genetic Influences, and Treatment Perspectives. | Dhiman A et al. | — | 2025 | → |
| Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model. | Nagao Y | — | 2024 | → |
| Opening new vistas on obsessive-compulsive disorder with the observing response task. | Pickenhan L et al. | — | 2024 | → |
| Similarities and differences between eating disorders and obsessive-compulsive disorder in childhood and adolescence: a systematic review. | Di Luzio M et al. | — | 2024 | → |
| Correlations between single nucleotide polymorphisms in obsessive-compulsive disorder with the clinical features or response to therapy. | Beheshti M et al. | — | 2023 | → |
| Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders. | Mahjani B et al. | — | 2022 | → |
| Psychedelic-Assisted Therapy for People with Eating Disorders. | Gukasyan N et al. | — | 2022 | → |
| Association of 5-HTR2A -1438A/G polymorphism with anorexia nervosa and bulimia nervosa: A meta-analysis. | Yan P et al. | — | 2021 | → |
| Malondialdehyde concentrations in obsessive-compulsive disorder: a systematic review and meta-analysis. | Mohammadi AH et al. | — | 2021 | → |
| Methylation Patterns of the <i>HTR2A</i> Associate With Relapse-Related Behaviors in Cocaine-Dependent Participants. | Land MA et al. | — | 2020 | → |
| The association of HTR2A polymorphisms with obsessive-compulsive disorder and its subtypes: A meta-analysis. | Mattina GF et al. | — | 2020 | → |
| Genetic variability in the serotoninergic system and age of onset in anorexia nervosa and obsessive-compulsive disorder. | Plana MT et al. | — | 2019 | → |
| Association analysis of SLC6A4 and HTR2A genes with obsessive-compulsive disorder: Influence of the STin2 polymorphism. | Gomes CKF et al. | — | 2018 | → |
| Association between serotonin 2A receptor genetic variations, stressful life events and suicide. | Ghasemi A et al. | — | 2018 | → |
| Genetic susceptibility in obsessive-compulsive disorder. | Fernandez TV et al. | — | 2018 | → |
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| High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder. | Grünblatt E et al. | — | 2017 | → |
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| Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. | Cappi C et al. | — | 2016 | → |
| Copy number variations play important roles in heredity of common diseases: a novel method to calculate heritability of a polymorphism. | Nagao Y | — | 2015 | → |
| An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder. | Cappi C et al. | — | 2014 | → |
| Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. | McGrath LM et al. | — | 2014 | → |
| Genetics of obsessive-compulsive disorder and related disorders. | Browne HA et al. | — | 2014 | → |