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COMT Val(158)Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1.


ABSTRACT: Neurofibromatosis type I (NF1) is a neurogenetic disease marked by multiple cognitive and learning problems. Genetic variants may account for phenotypic variance in NF1. Here, we investigated the association between the catechol-O-methyltransferase (COMT) Val(158)Met polymorphism and working memory and arithmetic performance in 50 NF1 individuals. A significant association of the COMT polymorphism was observed only with verbal working memory, as measured by the backward digit-span task with an advantageous performance for Met/Met carriers. To study how genetic modifiers influence NF1 cognitive performance might be of importance to decrease the unpredictability of the cognitive profile among NF1 patients.

SUBMITTER: Costa Dde S 

PROVIDER: S-EPMC4932101 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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COMT Val(158)Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1.

Costa Danielle de Souza Dde S   de Paula Jonas J JJ   Alvim-Soares Antonio M AM   Pereira Patrícia A PA   Malloy-Diniz Leandro F LF   Rodrigues Luiz O C LO   Romano-Silva Marco A MA   de Miranda Débora M DM  

Frontiers in human neuroscience 20160705


Neurofibromatosis type I (NF1) is a neurogenetic disease marked by multiple cognitive and learning problems. Genetic variants may account for phenotypic variance in NF1. Here, we investigated the association between the catechol-O-methyltransferase (COMT) Val(158)Met polymorphism and working memory and arithmetic performance in 50 NF1 individuals. A significant association of the COMT polymorphism was observed only with verbal working memory, as measured by the backward digit-span task with an a  ...[more]

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