Association analysis between K and-116A variants of butyrylcholinesterase and Alzheimer's disease in a Brazilian population

Association analysis between K and-116A variants of butyrylcholinesterase and Alzheimer's disease in a Brazilian population

Author Simao-Silva, Daiane Priscila Google Scholar
Bertolucci, Paulo Henrique Ferreira Autor UNIFESP Google Scholar
Labio, Roger William de Google Scholar
Payão, Spencer Luiz Marques Autor UNIFESP Google Scholar
Furtado-Alle, Lupe Google Scholar
Rodrigues Souza, Ricardo Lehtonen Google Scholar
Institution Univ Fed Parana
Universidade Federal de São Paulo (UNIFESP)
Sch Med Marilia
Abstract In Alzheimer's disease (AD) a reduction in acetylcholinesterase (AChE) and an increase in butyrylcholinesterase (BChE) activity are observed. K variant (539T) is the most common variant of the BCHE gene and, although controversial, several studies reported association between K variant and AD. Previous results showed that the K variant alone is not capable of diminishing BChE activity, depending on the presence of the -116A variant. Considering that, we conducted a case-control association study using a clinically well defined group of AD patients (n = 82) and age and sex matched control subjects (EC; n = 78) in order to test the association with these variations of BCHE gene in a Brazilian population. the allele, genotype and haplotype frequencies of the K and the -116A variants of BCHE gene were not significantly different between cases and controls. Although not reaching statistical significance, the results suggested that the presence of -116A variant may have a protective effect against AD. the association of the K variant with AD in a controversial manner in different surveys is probably caused by its linkage disequilibrium with -116A that, by reducing BChE activity, potentially increases cholinergic transmission in comparison with usual genotypes. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
Keywords Alzheimer's disease
BCHE
Butyrylcholinesterase
Language English
Sponsor Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Date 2013-03-25
Published in Chemico-biological Interactions. Clare: Elsevier B.V., v. 203, n. 1, p. 358-360, 2013.
ISSN 0009-2797 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 358-360
Origin http://dx.doi.org/10.1016/j.cbi.2012.09.008
Access rights Closed access
Type Article
Web of Science ID WOS:000318201800071
URI http://repositorio.unifesp.br/handle/11600/36098

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