title: Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome.
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.
  
  
  METHODS
  Patients with confirmed 22q11.2 deletions (N=44) underwent neurocognitive testing following Val(158)Met 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.
authors.affiliation: Children's Hospital of Philadelphia, Department of Child Development, USA. cbearden@mednet.ucla.edu
authors.forename: Carrie E
authors.initials: CE
authors.lastname: Bearden
authors.forename: Abbas F
authors.initials: AF
authors.lastname: Jawad
authors.forename: David R
authors.initials: DR
authors.lastname: Lynch
authors.forename: Set
authors.initials: S
authors.lastname: Sokol
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Kanes
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Sulagna C
authors.initials: SC
authors.lastname: Saitta
authors.forename: Stacy E
authors.initials: SE
authors.lastname: Harris
authors.forename: Edward
authors.initials: E
authors.lastname: Moss
authors.forename: Paul P
authors.initials: PP
authors.lastname: Wang
authors.forename: Elaine
authors.initials: E
authors.lastname: Zackai
authors.forename: Beverly S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: Tony J
authors.initials: TJ
authors.lastname: Simon
mesh_terms: D000483:Alleles; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics / Q000502:physiology; D003071:Cognition / Q000502:physiology*; D004062:DiGeorge Syndrome / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D009483:Neuropsychological Tests; D011110:Polymorphism, Genetic; D017397:Prefrontal Cortex / Q000201:enzymology / Q000502:physiology*; D014633:Valine / Q000235:genetics
chemical_list: D008715:Methionine; D002394:Catechol O-Methyltransferase; D014633:Valine