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Tytuł:
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Effects of a Functional COMT Polymorphism on Prefrontal Cognitive Function in Patients With 22q11.2 Deletion Syndrome.
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Autorzy:
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Bearden, Carrie E.
Jawad, Abbas F.
Lynch, David R.
Sokol, Set
Kanes, Steven J.
McFonald-McGinn, Donna M.
Saitta, Sulagna C.
Harris, Stacy E.
Moss, Edward
Wang, Paul P.
Zackai, Elaine
Emanuel, Beverly S.
Simon, Tony J.
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Temat:
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SCHIZOPHRENIA
GENETIC polymorphisms
PSYCHOSES
GENES
SHORT-term memory
PSYCHIATRY
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Źródło:
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American Journal of Psychiatry; Sep2004, Vol. 161 Issue 9, p1700-1702, 3p
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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 haploinslifficiency of the catechol O-methyltrarisferase (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. [ABSTRACT FROM AUTHOR]
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