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Association between a variant of the sigma-1 receptor gene and Alzheimer's disease
Authors:Fehér Ágnes  Juhász Anna  László Anna  Kálmán János  Pákáski Magdolna  Kálmán János  Janka Zoltán
Affiliation:University of Szeged, Department of Psychiatry, Szeged, Hungary. feher.agnes@med.u-szeged.hu
Abstract:
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.
Keywords:Alzheimer's disease   Sigma non-opioid intracellular receptor 1 (SIGMAR1)   Single nucleotide polymorphism (SNP)   rs1799729   rs1800866   Apolipoprotein E4
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