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

Hinard, Christine
Published in The American journal of psychiatry. 2006, vol. 163, no. 3, p. 537-539
Abstract 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.
Keywords AdolescentAdultCatechol O-Methyltransferase/genetics/metabolismChildCognition Disorders/diagnosis/geneticsDiGeorge Syndrome/diagnosis/enzymology/geneticsFemaleFrontal Lobe/physiologyGene Expression/genetics/physiologyGenetic Predisposition to DiseaseGenotypeHumansMaleMethionine/genetics/metabolismNeuropsychological TestsPolymorphism, GeneticValine/genetics/metabolism
PMID: 16513880
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Research group Unité de psychologie clinique de l'adolescence (UPCA)
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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 https://archive-ouverte.unige.ch/unige:5369

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Deposited on : 2010-03-09

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