title: 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.
authors.affiliation: Postgraduate Program in Molecular Medicine, School of Medicine, Federal University of Minas Gerais Belo Horizonte, Brazil.
authors.forename: Danielle de Souza
authors.initials: Dde S
authors.lastname: Costa
authors.affiliation: Postgraduate Program in Molecular Medicine, School of Medicine, Federal University of Minas GeraisBelo Horizonte, Brazil; Department of Psychology, Faculty of Medical Sciences of Minas GeraisBelo Horizonte, Brazil.
authors.forename: Jonas J
authors.initials: JJ
authors.lastname: de Paula
authors.affiliation: Postgraduate Program in Molecular Medicine, School of Medicine, Federal University of Minas Gerais Belo Horizonte, Brazil.
authors.forename: Antonio M
authors.initials: AM
authors.lastname: Alvim-Soares
authors.affiliation: Postgraduate Program in Molecular Medicine, School of Medicine, Federal University of Minas Gerais Belo Horizonte, Brazil.
authors.forename: Patrícia A
authors.initials: PA
authors.lastname: Pereira
authors.affiliation: Department of Psychiatry, School of Medicine, Federal University of Minas GeraisBelo Horizonte, Brazil; National Institute of Science and Technology of Molecular MedicineBelo Horizonte, Brazil.
authors.forename: Leandro F
authors.initials: LF
authors.lastname: Malloy-Diniz
authors.affiliation: Neurofibromatosis Outpatient Reference Center, School of Medicine, Federal University of Minas Gerais Belo Horizonte, Brazil.
authors.forename: Luiz O C
authors.initials: LO
authors.lastname: Rodrigues
authors.affiliation: Department of Psychiatry, School of Medicine, Federal University of Minas GeraisBelo Horizonte, Brazil; National Institute of Science and Technology of Molecular MedicineBelo Horizonte, Brazil.
authors.forename: Marco A
authors.initials: MA
authors.lastname: Romano-Silva
authors.affiliation: National Institute of Science and Technology of Molecular MedicineBelo Horizonte, Brazil; Department of Pediatrics, School of Medicine, Federal University of Minas GeraisBelo Horizonte, Brazil.
authors.forename: Débora M
authors.initials: DM
authors.lastname: de Miranda
keywords: COMT Val158Met polymorphism; arithmetic; executive functions; genetic modifiers; neurofibromatosis type I; neuropsychology; working memory