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

Ágnes Fehér, Anna Juhász, Anna László, János Kálmán, Magdolna Pákáski, János Kálmán, Zoltán Janka

Research output: Contribution to journalArticle

38 Citations (Scopus)


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
Issue number2
Publication statusPublished - May 31 2012


  • Alzheimer's disease
  • Apolipoprotein e4
  • Rs1799729
  • Rs1800866
  • Sigma non-opioid intracellular receptor 1 (SIGMAR1)
  • Single nucleotide polymorphism (SNP)

ASJC Scopus subject areas

  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Association between a variant of the sigma-1 receptor gene and Alzheimer's disease'. Together they form a unique fingerprint.

  • Cite this