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

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dc.contributor.author Simao-Silva, Daiane Priscila
dc.contributor.author Bertolucci, Paulo Henrique Ferreira [UNIFESP]
dc.contributor.author Labio, Roger William de
dc.contributor.author Payão, Spencer Luiz Marques [UNIFESP]
dc.contributor.author Furtado-Alle, Lupe
dc.contributor.author Rodrigues Souza, Ricardo Lehtonen
dc.date.accessioned 2016-01-24T14:31:26Z
dc.date.available 2016-01-24T14:31:26Z
dc.date.issued 2013-03-25
dc.identifier http://dx.doi.org/10.1016/j.cbi.2012.09.008
dc.identifier.citation Chemico-biological Interactions. Clare: Elsevier B.V., v. 203, n. 1, p. 358-360, 2013.
dc.identifier.issn 0009-2797
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/36098
dc.description.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. en
dc.description.sponsorship Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.format.extent 358-360
dc.language.iso eng
dc.publisher Elsevier B.V.
dc.relation.ispartof Chemico-biological Interactions
dc.rights Acesso restrito
dc.subject Alzheimer's disease en
dc.subject BCHE en
dc.subject Butyrylcholinesterase en
dc.title Association analysis between K and-116A variants of butyrylcholinesterase and Alzheimer's disease in a Brazilian population en
dc.type Artigo
dc.rights.license http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.contributor.institution Univ Fed Parana
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Sch Med Marilia
dc.description.affiliation Univ Fed Parana, Dept Genet, BR-80060000 Curitiba, Parana, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Dept Behav Neurol, São Paulo, Brazil
dc.description.affiliation Sch Med Marilia, Dept Genet & Mol Biol, Hemoctr, São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Dept Behav Neurol, São Paulo, Brazil
dc.identifier.doi 10.1016/j.cbi.2012.09.008
dc.description.source Web of Science
dc.identifier.wos WOS:000318201800071



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