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2. COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1.

Author

de Souza Costa, Danielle, de Paula, Jonas J., Alvim-Soares Jr., Antonio M., Pereira, Patrícia A., Malloy-Diniz, Leandro F., Rodrigues, Luiz O. C., Romano-Silva, Marco A., de Miranda, Débora M., Dong-Hoon Lee, and Dawei Li

Subjects
NEUROFIBROMATOSIS, COGNITION disorders, PHENOTYPES, GENETIC polymorphisms, PATIENTS
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) Val158Met 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. [ABSTRACT FROM AUTHOR]

Published
2016
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