Association analysis between K and-116A variants of butyrylcholinesterase and Alzheimer's disease in a Brazilian population
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2013-03-25
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Bertolucci, Paulo Henrique Ferreira 
Payão, Spencer Luiz Marques
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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.
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Chemico-biological Interactions. Clare: Elsevier B.V., v. 203, n. 1, p. 358-360, 2013.