Scientific article
Open access

No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome

Published inThe American journal of psychiatry, vol. 163, no. 3, p. 537-539
Publication date2006

OBJECTIVE: Previous studies linking the catechol O-methyltransferase (COMT) functional polymorphism to the specific phenotype in 22q11.2 deletion syndrome (22q11.2DS) have yielded inconsistent results. The goal of the present study was to replicate a recent finding that executive function is higher in individuals hemizygous for the Met allele. METHOD: Thirty-four children and young adults with a 22q11.2 microdeletion, hemizygous for the Val (N=14) or Met (N=20) polymorphism, were tested on measures of executive function, IQ, and memory. RESULTS: No significant differences were detected between Met- and Val-hemizygous participants on measures of executive function. The groups did not differ on full-scale, performance, and verbal IQ or on verbal and visual memory. CONCLUSIONS: These results suggest either a small effect of the COMT polymorphism on executive function in 22q11.2DS or no effect at all. Further research is needed to characterize the implications of hemizygosity of COMT in 22q11.2DS for cognitive function.

  • Adolescent
  • Adult
  • Catechol O-Methyltransferase/genetics/metabolism
  • Child
  • Cognition Disorders/diagnosis/genetics
  • DiGeorge Syndrome/diagnosis/enzymology/genetics
  • Female
  • Frontal Lobe/physiology
  • Gene Expression/genetics/physiology
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Methionine/genetics/metabolism
  • Neuropsychological Tests
  • Polymorphism, Genetic
  • Valine/genetics/metabolism
Citation (ISO format)
GLASER, Bronwyn et al. No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. In: The American journal of psychiatry, 2006, vol. 163, n° 3, p. 537–539. doi: 10.1176/appi.ajp.163.3.537
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Article (Published version)
ISSN of the journal0002-953X

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