Analysis of APBB2 gene polymorphisms in sporadic Alzheimer’s disease
| Autor: | Ewa Golanska, Krystyna Hulas-Bigoszewska, Sylwia M. Gresner, Beata Pepłońska, Maria Styczyńska, Maria Barcikowska, Pawel P. Liberski, Monika Sieruta, Elizabeth H. Corder |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Apolipoprotein E APBB2 medicine.medical_specialty Genotype Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Gene Frequency Alzheimer Disease Internal medicine mental disorders medicine Humans Allele Allele frequency Adaptor Proteins Signal Transducing Aged Aged 80 and over Genetics General Neuroscience Middle Aged medicine.disease Endocrinology Female Age of onset Alzheimer's disease |
| Zdroj: | Neuroscience Letters. 447:164-166 |
| ISSN: | 0304-3940 |
| DOI: | 10.1016/j.neulet.2008.10.003 |
| Popis: | The accumulation of beta-amyloid (Abeta) in the brain plays a central role in the pathogenesis of Alzheimer's disease (AD). The processing of Abeta precursor protein to Abeta is modulated by binding proteins including APBB2 [amyloid beta precursor protein-binding family B member 2, FE65-like, FE65L1]. We investigated two intronic SNPs within the APBB2 gene: rs13133980 and hCV1558625 (rs17443013), among Polish AD patients and healthy controls (n=213, 171). The frequencies of rs13133980 alleles and genotypes did not differ between cases and controls, irrespective of age of onset or APOE epsilon4 carrier status. The hCV1558625 G allele was over-represented in patients with onset under age 70 compared to controls in the same age range (57% vs. 43%, p=0.03). The association between the hCV1558625 G allele and susceptibility for AD at relatively young ages needs to be confirmed in other samples. |
| Databáze: | OpenAIRE |
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