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

نویسندگان

  • Danielle de Souza Costa
  • Jonas J. de Paula
  • Antonio M. Alvim-Soares
  • Patrícia A. Pereira
  • Leandro F. Malloy-Diniz
  • Luiz O. C. Rodrigues
  • Marco A. Romano-Silva
  • Débora M. de Miranda
چکیده

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.

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عنوان ژورنال:

دوره 10  شماره 

صفحات  -

تاریخ انتشار 2016