Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome

Carrie E. Bearden, Abbas F. Jawad, David R. Lynch, Set Sokol, Steven J. Kanes, Donna M. McDonald-McGinn, Sulagna C. Saitta, Stacy E. Harris, Edward Moss, Paul P. Wang, Elaine Zackai, Beverly S. Emanuel, Tony J Simon

Research output: Contribution to journalArticle

113 Scopus citations

Abstract

Objective: The 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) is associated with attentional problems and executive dysfunction, and is one of the highest known risk factors for schizophrenia. These behavioral manifestations of 22q11.2 deletion 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 as a predictor of prefrontal cognitive function in patients with 22q11.2 deletion syndrome. Method: Patients with confirmed 22q11.2 deletions (N=44) underwent neurocognitive testing following Val158Met genotyping (Met hemizygous: N=16; Val hemizygous: N=28). Results: Analyses of covariance revealed that Met-hemizygous patients performed significantly better on a composite measure of executive function (comprising set-shifting, verbal fluency, attention, and working memory) than did Val-hemizygous patients. Conclusions: These data are consistent with those of previous studies in normal individuals, suggesting that a functional genetic polymorphism in the 22q11 region may influence prefrontal cognition in individuals with COMT haploinsufficiency.

Original languageEnglish (US)
Pages (from-to)1700-1702
Number of pages3
JournalAmerican Journal of Psychiatry
Volume161
Issue number9
DOIs
StatePublished - Sep 2004
Externally publishedYes

ASJC Scopus subject areas

  • Psychiatry and Mental health

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    Bearden, C. E., Jawad, A. F., Lynch, D. R., Sokol, S., Kanes, S. J., McDonald-McGinn, D. M., Saitta, S. C., Harris, S. E., Moss, E., Wang, P. P., Zackai, E., Emanuel, B. S., & Simon, T. J. (2004). Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome. American Journal of Psychiatry, 161(9), 1700-1702. https://doi.org/10.1176/appi.ajp.161.9.1700