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

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dc.contributor.authorSimao-Silva, Daiane Priscila
dc.contributor.authorBertolucci, Paulo Henrique Ferreira [UNIFESP]
dc.contributor.authorLabio, Roger William de
dc.contributor.authorPayão, Spencer Luiz Marques [UNIFESP]
dc.contributor.authorFurtado-Alle, Lupe
dc.contributor.authorRodrigues Souza, Ricardo Lehtonen
dc.contributor.institutionUniv Fed Parana
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionSch Med Marilia
dc.date.accessioned2016-01-24T14:31:26Z
dc.date.available2016-01-24T14:31:26Z
dc.date.issued2013-03-25
dc.description.abstractIn 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.affiliationUniv Fed Parana, Dept Genet, BR-80060000 Curitiba, Parana, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Behav Neurol, São Paulo, Brazil
dc.description.affiliationSch Med Marilia, Dept Genet & Mol Biol, Hemoctr, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Behav Neurol, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.format.extent358-360
dc.identifierhttp://dx.doi.org/10.1016/j.cbi.2012.09.008
dc.identifier.citationChemico-biological Interactions. Clare: Elsevier B.V., v. 203, n. 1, p. 358-360, 2013.
dc.identifier.doi10.1016/j.cbi.2012.09.008
dc.identifier.issn0009-2797
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/36098
dc.identifier.wosWOS:000318201800071
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofChemico-biological Interactions
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.subjectAlzheimer's diseaseen
dc.subjectBCHEen
dc.subjectButyrylcholinesteraseen
dc.titleAssociation analysis between K and-116A variants of butyrylcholinesterase and Alzheimer's disease in a Brazilian populationen
dc.typeinfo:eu-repo/semantics/article
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