1. Analysis of UBQLN1 variants in a Polish Alzheimer's disease patient: control series.
- Author
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Golan MP, Melquist S, Safranow K, Styczyńska M, Słowik A, Kobryś M, Zekanowski C, and Barcikowska M
- Subjects
- Adaptor Proteins, Signal Transducing, Age of Onset, Aged, Apolipoprotein E4 genetics, Autophagy-Related Proteins, Female, Genetic Predisposition to Disease epidemiology, Haplotypes, Humans, Male, Poland epidemiology, Risk Factors, Alzheimer Disease epidemiology, Alzheimer Disease genetics, Carrier Proteins genetics, Cell Cycle Proteins genetics, Polymorphism, Single Nucleotide
- Abstract
Late-onset Alzheimer's disease (LOAD) is the most common neurodegenerative disorder, and has a complex etiology. Recently an intronic polymorphism in the ubiquilin 1 gene (UBQLN1) and a particular haplotype was reported to be associated with LOAD. We investigated whether variants in UBQLN1 confer a risk for the disease in 407 Polish LOAD patients and 407 controls. We observed a weak association with the rs2781002 polymorphism, however, contrary to the initial reports, in our group the association was with the A allele. Risk estimation for AA versus GG genotypes showed that the AA genotype is a weak risk factor for AD (OR = 1.8, 95% CI = 1.1-3.1, p = 0.025). This effect was stronger in a group of LOAD patients without APOE4 allele. Haplotype analyses indicate that there is an increase of haplotypes with an A allele in the case group. Also, the specific haplotypes with the A allele that increase AD risk differ between the APOE4-positive and APOE4-negative pools. However, the association observed seems to be driven mostly by rare (<5%) haplotypes. Results suggest a need for additional association studies and in silico analysis of the UBQLN1 locus., ((c) 2008 S. Karger AG, Basel.)
- Published
- 2008
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