ArticleBiological psychiatry2014
Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome.
Article in Biological psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Genetic Determinants of Gating Functions: Do We Get Closer to Understanding Schizophrenia Etiopathogenesis?Frontiers in psychiatry · 2020Pooled it
- Gothelf's Haplotype of COMT in Parkinson's Disease: A Case-Control Study.Biomedicines · 2026Article
- Disentangling Psychopathology and Social Cognition in 22q11.2 Deletion Syndrome with Psychotic Symptoms and Schizophrenia.Schizophrenia bulletin open · 2026Article
- Short communication: catechol-O-methyltransferase allelic variation in relation to psychological and hormonal indices of stress in children and adolescents with chromosome 22q11.2 deletion syndrome (22q11.2DS).Journal of applied genetics · 2025Article
- Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview.Biomolecules · 2025Review
- Dysregulated COMT Expression in Fragile X Syndrome.Neuromolecular medicine · 2023Article
- Coarctation of the Aorta: Modern Paradigms Across the Lifespan.Hypertension (Dallas, Tex. : 1979) · 2023Review
- Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrentCell genomics · 2023Article
- Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome.International journal of molecular sciences · 2023Review
- Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia.Journal of genetics · 2023Article
- The Evolving Role of Animal Models in the Discovery and Development of Novel Treatments for Psychiatric Disorders.Advances in neurobiology · 2023Article
- Understanding Emotions: Origins and Roles of the Amygdala.Biomolecules · 2021Review
- Lower [Psychological medicine · 2020Article
- Neurobiological perspective of 22q11.2 deletion syndrome.The lancet. Psychiatry · 2019Review
- Exploratory case study of monozygotic twins with 22q11.2DS provides further clues to circumscribe neurocognitive markers of psychotic symptoms.NeuroImage. Clinical · 2019Article
- 22q11.2 Deletion Syndrome-Associated Parkinson's Disease.Movement disorders clinical practice · 2019Review
- No association ofPeerJ · 2019Article
- Article
- The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths.Biological psychiatry · 2017Article
- Adolescence is the starting point of sex-dichotomous COMT genetic effects.Translational psychiatry · 2017Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
background22q11.2 deletion syndrome (22q11.2DS) is the most common genetic syndrome associated with schizophrenia. The catechol-O-methyltransferase (COMT) gene is located in the obligatory deletion region, and possible associations between COMT variants and neuropsychiatric manifestations in 22q11.2DS have been reported. The purpose of the current study was to evaluate the effect of COMT hemizygosity and molecular haplotypes on gene expression and enzyme activity and its association with psychotic symptoms in 22q11.2DS.
methodsLymphoblast samples were drawn from 53 individuals with 22q11.2DS and 16 typically developing control subjects. We measured COMT messenger (m)RNA and protein expression and enzyme activity using standard procedures. The presence of a psychotic disorder and cognitive deficits were also evaluated using structured testing.
resultsThere was an approximately 50% reduction in COMT mRNA, protein, and enzyme activity levels in 22q11.2DS samples. Haplotype analysis revealed clear phenotypic differences between various Val-containing haplotypes on COMT-3' untranslated region extended mRNA, soluble COMT and membrane-bound proteins, and enzyme activity. The G variant of rs165599, a 3' untranslated region single nucleotide polymorphism, was associated with low levels of COMT expression and with the presence of psychosis and lower performance IQ scores in our 22q11.2DS sample. Finally, we demonstrate that the COMT rs74745580 "T" mutation is associated with absent soluble COMT expression and very low COMT activity in two 22q11.2DS individuals.
conclusionsOur findings confirm a robust effect of COMT hemizygosity on COMT activity and show complex interactions of variants within the COMT gene that influence COMT biology and confound conclusions based on associations with the Val158Met genotype alone.
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