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.
journal_name
Chem Biol Interactjournal_title
Chemico-biological interactionsauthors
Simão-Silva DP,Bertolucci PH,de Labio RW,Payão SL,Furtado-Alle L,Souza RLdoi
10.1016/j.cbi.2012.09.008subject
Has Abstractpub_date
2013-03-25 00:00:00pages
358-60issue
1eissn
0009-2797issn
1872-7786pii
S0009-2797(12)00173-1journal_volume
203pub_type
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