Association between a variant of the sigma-1 receptor gene and Alzheimer%26apos;s disease

作者：Feher Agnes^*; Juhasz Anna; Laszlo Anna; Kalman Janos Jr; Pakaski Magdolna; Kalman Janos; Janka Zoltan

来源：Neuroscience Letters, 2012, 517(2): 136-139.

DOI：10.1016/j.neulet.2012.04.046

• Alzheimer%26apos
• s disease
• Sigma non-opioid intracellular receptor 1 (SIGMAR1)
• Single nucleotide polymorphism (SNP)
• rs1799729
• rs1800866
• Apolipoprotein E4

Alzheimer%26apos;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.

• 出版日期2012-5-31