title: Association between a variant of the sigma-1 receptor gene and Alzheimer's disease.
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.
authors.affiliation: University of Szeged, Department of Psychiatry, Szeged, Hungary. feher.agnes@med.u-szeged.hu
authors.forename: Ágnes
authors.initials: Á
authors.lastname: Fehér
authors.forename: Anna
authors.initials: A
authors.lastname: Juhász
authors.forename: Anna
authors.initials: A
authors.lastname: László
authors.forename: János
authors.initials: J
authors.lastname: Kálmán
authors.forename: Magdolna
authors.initials: M
authors.lastname: Pákáski
authors.forename: János
authors.initials: J
authors.lastname: Kálmán
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Janka
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D015810:Linkage Disequilibrium; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D017480:Receptors, sigma / Q000235:genetics*; D018570:Risk Assessment; D000097605:Sigma-1 Receptor
chemical_list: D001057:Apolipoproteins E; D004247:DNA; D017480:Receptors, sigma; D000097605:Sigma-1 Receptor