期刊
NEUROSCIENCE LETTERS
卷 517, 期 2, 页码 136-139出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2012.04.046
关键词
Alzheimer's disease; Sigma non-opioid intracellular receptor 1 (SIGMAR1); Single nucleotide polymorphism (SNP); rs1799729; rs1800866; Apolipoprotein E4
资金
- Hungarian Ministry of Health [ETT 052-07/2009]
Alzheimer's disease (AD) is a progressive neurodegenerative disorder with complex etiology and strong genetic predisposition. A number of investigations support the possible involvement of sigma non-opioid intracellular receptor 1 (SIGMAR1) in the pathophysiology of AD. We aimed to investigate the association between SIGMAR1 polymorphisms and late-onset AD, therefore we genotyped rs1799729 (GC-241-240TT) and rs1800866 (Q2P) in 322 Hungarian late-onset AD patients and 250 ethnically matched, elderly control individuals. The investigated polymorphisms were in nearly complete linkage disequilibrium resulting in the GC-Q and TT-P predominant haplotypes that were subjected to the statistical analyses. Our data demonstrates an association between the SIGMAR1 TT-P variant and the risk for developing AD (p = 0.019), and a potential modest interaction effect (p = 0.058) of the co-presence of the TT-P haplotype with apolipoprotein E4 allele on the risk for AD. Based on this mild significance, we could not fully support the hypothesis that TT-P haplotype in interaction with APOE E4 allele confers risk for developing AD. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
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