Apolipoprotein gene E4 allele promoter polymorphisms as risk factors for Alzheimer's disease

Alzheimer's disease is a complex neurodegenerative disorder, characterized by progressive cognitive decline and distinct neuropathology. The apolipoprotein gene E4 allele (APOE 4) is a major risk factor for the disease. Promoter polymorphisms at -491 and -427 may also contribute to the risk. We...

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Bibliographic Details
Published inPsychiatric genetics Vol. 15; no. 4; p. 271
Main Authors Parker, Ginny R, Cathcart, Heather M, Huang, Rong, Lanham, Irene S, Corder, Elizabeth H, Poduslo, Shirley E
Format Journal Article
LanguageEnglish
Published England 01.12.2005
Subjects
Alzheimer Disease - genetics
Apolipoprotein E4
Apolipoproteins E - genetics
DNA Primers
Gene Expression Regulation
Genetic Carrier Screening
Genotype
Georgia
Humans
Polymorphism, Genetic
Promoter Regions, Genetic
Reference Values
Risk Factors
Texas
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Summary:Alzheimer's disease is a complex neurodegenerative disorder, characterized by progressive cognitive decline and distinct neuropathology. The apolipoprotein gene E4 allele (APOE 4) is a major risk factor for the disease. Promoter polymorphisms at -491 and -427 may also contribute to the risk. We examined the two polymorphisms in 178 Alzheimer's patients and 141 controls. The -491AA genotype was overrepresented among the patients (68 versus 54%, P=0.01). However, in patients who were APOE4 carriers, the -491AA genotype more than doubled the risk [odds ratio (OR)=2.5; 95% confidence interval (CI)=1.2-5.4], especially in combination with -427TT [odds ratio (OR)=3.3; 95% confidence interval (CI)=1.5-7.7]. Moreover, the -491A/-427T/APOE4/APOC1A haplotype was threefold higher for patients. These results contribute to the evidence that regulation of APOE4 expression modulates risk for Alzheimer's disease.
ISSN:0955-8829
DOI:10.1097/00041444-200512000-00009