Association between a variant of the sigma-1 receptor gene and Alzheimer's disease

Ágnes Fehér, A. Juhász, Anna László, J. Kálmán, M. Pákáski, János Kálmán, Z. Janka

Research output: Article

36 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)136-139
Number of pages4
JournalNeuroscience Letters
Volume517
Issue number2
DOIs
Publication statusPublished - máj. 31 2012

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Alzheimer Disease
Genes
Haplotypes
Alleles
Apolipoprotein E4
Linkage Disequilibrium
Genetic Predisposition to Disease
sigma-1 receptor
Neurodegenerative Diseases

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Association between a variant of the sigma-1 receptor gene and Alzheimer's disease. / Fehér, Ágnes; Juhász, A.; László, Anna; Kálmán, J.; Pákáski, M.; Kálmán, János; Janka, Z.

In: Neuroscience Letters, Vol. 517, No. 2, 31.05.2012, p. 136-139.

Research output: Article

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