Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome
Abstract
Velocardiofacial syndrome (VCFS) is caused by a microdeletion in chromosome 22 and is a risk factor for the development of schizophrenia and other psychiatric disorders. The catechol-O-methyltransferase (COMT), residing in the 22q11.2 microdeletion region, is a major candidate gene for genetic susceptibility to neuropsychiatric disorders in VCFS. Individuals with VCFS carrying the low-activity allele (COMTL) are expected to have the lowest possible COMT activity since they have only a single copy of the gene. We explored the possibility that COMTL is associated with psychiatric disorders commonly found in VCFS. Fifty-five unrelated individuals with VCFS underwent psychiatric evaluation and were genotyped for the COMT 158Val/Met polymorphism coding for COMT high/low-activity alleles. The COMTL allele was significantly more prevalent in VCFS subjects with attention deficit hyperactivity disorder (ADHD) (73.9% vs. 33.3%, OR 5.67, chi2=7.76, p=0.005) and obsessive-compulsive disorder (OCD) (78.6% vs. 33.3%, OR 7.33, chi2=7.24, p=0.007) than in the control group (VCFS subjects without OCD, ADHD and schizophrenia/schizoaffective (SZ/SZaff) disorder). The results of this study suggest that greatly reduced COMT activity, as expected in VCFS COMTL individuals may be a risk factor for psychiatric sequelae in this population. Future longitudinal studies focusing on additional COMT polymorphic sites and other candidate genes from the deleted region will elucidate the molecular pathways leading to schizophrenia and other psychiatric disorders in VCFS.
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Met has been associated with ADHD inattention and hyperactivity-impulsivity symptoms in adult community samples.
“Moreover, Met has been associated with ADHD inattention and hyperactivity-impulsivity symptoms in adult community samples (Ettinger et al, 2006; Gothelf et al, 2007; Michaelovsky et al, 2008; Reuter et al, 2006).”
From DAT1 and COMT effects on delay discounting and trait impulsivity in male adolescents with attention deficit/hyperactivity disorder and healthy controls (2010) · cites this paper as Gothelf et al, 2007
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BackgroundGenetics of Attention Deficit Hyperactivity Disorder
Mick, E. O., & Faraone, S. V. (2008) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/j.chc.2007.11.011 · Cited by 230 · see citing works
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“Moreover, Met has been associated with ADHD inattention and hyperactivity-impulsivity symptoms in adult community samples (Ettinger et al, 2006; Gothelf et al, 2007; Michaelovsky et al, 2008; Reuter et al, 2006).”
The neurobiology of attention deficit/hyperactivity disorder
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“The very high prevalence of ADHD in VCF male children (41%) suggests that the 22q11 deleted region harbors gene or genes that contribute to the etiology of ADHD in this population; recently, an association between the low level of catechol-omethyl-transferase (COMT) 158 met allele located in this region and ADHD in VC…”
BackgroundBehavioral and Neuroanatomical Phenotypes in Mouse Models of Autism
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Self-citationNeuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion
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“Studies of ADHD in people with 22q11DS have reported that the disorder observed is most commonly the inattentive or combined subtype (Antshel et al., 2006; Gothelf et al., 2004a; Niklasson et al., 2009; Schneider et al., 2014a) although in following up a group of 37 children with 22q11DS and ADHD diagnoses at mean age…”
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“2DS adults carrying the COMT Val allele (high-activity allele), those carrying the Met allele (low-activity allele) tend to have increased risk for psychotic disorders (33) and other neuropsychiatric syndromes (30) and have more severe cognitive deficits (6,29,31).”
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Self-citationAssociation of the catechol-O-methyltransferase val158met polymorphism and anxiety-related traits
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“2DS patients with ADHD compared to those without ADHD (Gothelf et al. 2007; Michaelovsky et al. 2008).”
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“…22q11DS appear to be a risk factor for psychiatric disorders such as autism spectrum disorders (Vorstman et al., 2006), attention deficit hyperactivity disorder (Gothelf et al., 2007), affective disorders (Green et al., 2009) and schizophrenia-like psychotic disorders (Murphy et al., 1999).”
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“…et al., 2005] accompanied by reductions in the orbitofrontal [Kates et al., 2011b], parieto-occipital [Kates et al., 2001; Bearden et al., 2007; Gothelf et al., 2007b], temporal [Eliez et al., 2001; Chow et al., 2002; Campbell et al., 2006], and anterior cingulate cortices [Dufour et al.,…”
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“A non-synonymous SNP, rs4680 (Val158Met), in the catechol-Omethyltransferase gene (COMT) encoding an enzyme involved in catecholamine turnover that regulates the levels of dopamine, norepinephrine and epinephrine in the synaptic cleft, has also been associatedwith persistent ADHDandwith alterations in brain white matt…”
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Sampaio, A. S., Hounie, A. G., Petribú, K., Cappi, C., Morais, I. A., Vallada, H., do Rosário, M. C., Stewart, S. E., Fargeness, J., Mathews, C. A., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0119592 · Cited by 23 · see citing works
“A deletion within the 22q11 region, which includes the COMT region, causes velocardiofacial syndrome, which increases the risk for many psychiatric disorders [9], including OCD [10].”
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“2DS would thus be expected to manifest lower enzyme levels than would TD individuals, with those hemizygous for the MET allele situated at a more extreme position on the inverse U function than those hemizygous for the VAL allele (Gothelf et al., 2007).”
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“…in individuals with the COMT MET variant and a negative effect of high proline levels on cognitive and behavioural outcomes in individuals with this variant (41–43 , Ourfindings add to our understanding of the variable penetrance of cognitive and behavioural phenotypes in individuals with 22q11DS.”
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“COMT is encoded by a single gene localized on chromosome 22q11 region, which has a close relationship with a variety of mental disorders including OCD (Carlson et al., 1997; Gothelf et al., 2004, 2007; Murphy, 2002).”
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“Most studies investigating intelligence in 22q11DS in relation to ASD and ADHD symptomatology did not find a relation between FSIQ level and ASD symptoms (Vorstman et al. 2006), or between FSIQ, VIQ or PIQ and ADHD symptoms, respectively (Gothelf et al. 2007; Green et al. 2009; Hooper et al. 2013).”
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- Authors
- Gothelf, D., Michaelovsky, E., Frisch, A., Zohar, A. H., Presburger, G., Burg, M., Aviram‐Goldring, A., Frydman, M., Yeshaya, J., Shohat, M., Korostishevsky, M., Apter, A. S., & Weizman, A.
- Affiliations
- Schneider Children's Medical Center (IL)
- Tel Aviv University (IL)
- Ruppin Academic Center (IL)
- Sheba Medical Center (IL)
- Rabin Medical Center (IL)
- Corresponding author
- Doron Gothelf
- ORCID
- Venue
- The International Journal of Neuropsychopharmacology
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-05-31
- Volume
- 10
- Issue
- 03
- Pages
- 301
- ISSN
- 1461-1457 (ISSN-L)
- 1469-5111
- OpenAlex
- W2166063546
- Cited by
- 67
- References
- 0
- Citations by year
- 2024: 2 · 2022: 1 · 2019: 2 · 2018: 1 · 2017: 4 · 2016: 2 · 2015: 5 · 2014: 2 · 2013: 7 · 2012: 6
- FWCI
- 4.03
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The International Journal of Neuropsychopharmacology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Attention Deficit Hyperactivity Disorder
- Keywords
- 22q11.2 deletion syndrome, 22q11.2 microdeletion, catechol-O-methyltransferase, attention deficit hyperactivity disorder, obsessive-compulsive disorder, schizophrenia, genetic susceptibility, psychiatric comorbidity
- MeSH terms
- Adolescent, Adult, Alleles, Attention Deficit Disorder with Hyperactivity, Catechol O-Methyltransferase, Cognition, Data Interpretation, Statistical, DiGeorge Syndrome, Female, Genotype, Humans, Male, Methionine, Neuropsychological Tests, Obsessive-Compulsive Disorder, Risk Factors, Schizophrenia, Amino Acid Substitution
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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