Effects of Comt Genotype on Behavioral Symptomatology in the 22q11.2 Deletion Syndrome
Open accessAbstract
The 22q11.2 Deletion Syndrome (DiGeorge/velocardiofacial syndrome) is associated with elevated rates of psychosis, and is also characterized by severe attentional difficulties and executive dysfunction. Behavioral manifestations of this syndrome could result from haploinsufficiency of the catechol-O-methyltransferase (COMT) gene, located within the 22q11 region. The goal of the present study was to examine COMT genotype in relation to behavioral symptomatology in this syndrome. Val158/108Met was genotyped in 38 patients (16 Met/-, 22 Val/-) with confirmed 22q11.2 deletions who had received the Child Behavior Checklist (CBCL) as part of a comprehensive evaluation. Results indicated that the Val genotype was associated with significantly greater internalizing and externalizing behavioral symptomatology in children with 22q11.2 deletions. Val allele status was associated with a greater-than-four-fold increase in risk for clinically significant behavior problems in children with this syndrome. These data are consistent with previous findings of increased psychopathology associated with the Val genotype in normal individuals and suggest that a functional genetic polymorphism in the 22q11 region may influence behavior in individuals with COMT haploinsufficiency.
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Other studies reported high aggression being associated with either Met-allele carriers or no significant association.
“Other studies reported high aggression being associated with either Met-allele carriers [61], or no significant association [62].”
From Genetics of child aggression, a systematic review (2024) · cites this paper as [62]
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- Authors
- Bearden, C. E., Jawad, A. F., Lynch, D. R., Monterossso, J. R., Sokol, S., McDonald-McGinn, D. M., Saitta, S. C., Harris, S. E., Moss, E., Wang, P. P., Zackai, E., Emanuel, B. S., & Simon, T. J.
- Affiliations
- University of California, Los Angeles (US)
- b Department of Biostatistics
- Children's Hospital of Philadelphia (US)
- c Department of Human Genetics and Molecular Biology
- a Department of Child Development
- Corresponding author
- Bearden, Carrie E.
- Venue
- Child Neuropsychology
- Publisher
- Informa UK Limited
- Published
- 2005-02
- Volume
- 11
- Issue
- 1
- Pages
- 109-117
- ISSN
- 0929-7049 (ISSN-L)
- 1744-4136
- PMC
- PMC2810976
- OpenAlex
- W2155942272
- Cited by
- 42
- References
- 48
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 1 · 2020: 1 · 2019: 1 · 2018: 1 · 2016: 2 · 2015: 5 · 2013: 1 · 2012: 3
- FWCI
- 1.62
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Child Neuropsychology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- American Federation for Aging Research
- National Institutes of Health
- National Institute on Deafness and Other Communication Disorders (P01DC002027)
- National Center for Research Resources (M01RR000240)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
- Keywords
- 22q11.2 deletion syndrome, catechol-O-methyltransferase, haploinsufficiency, internalizing problems, externalizing problems, child behavior problems, genetic polymorphism, executive dysfunction
- MeSH terms
- Catechol O-Methyltransferase, Child, Child Behavior Disorders, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Female, Genotype, Humans, Male, Polymorphism, Genetic, Severity of Illness Index, Gene Deletion
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