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


METHODS
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.
Glaser
Bronwyn
B
Department of Genetic Medicine, University of Geneva Medical School and University Hospitals, Switzerland.
Debbane
Martin
M
Hinard
Christine
C
Morris
Michael A
MA
Dahoun
Sophie P
SP
Antonarakis
Stylianos E
SE
Eliez
Stephan
S
D000293:Adolescent; D000328:Adult; D002394:Catechol O-Methyltransferase / Q000235:genetics* / Q000378:metabolism; D002648:Child; D003072:Cognition Disorders / Q000175:diagnosis* / Q000235:genetics; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005625:Frontal Lobe / Q000502:physiology*; D015870:Gene Expression / Q000235:genetics / Q000502:physiology; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics / Q000378:metabolism; D009483:Neuropsychological Tests; D011110:Polymorphism, Genetic; D014633:Valine / Q000235:genetics / Q000378:metabolism
D008715:Methionine; D002394:Catechol O-Methyltransferase; D014633:Valine