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

2005; Lippincott Williams & Wilkins; Volume: 15; Issue: 4 Linguagem: Inglês

10.1097/00041444-200512000-00009

1473-5873

Ginny R. Parker, Heather M. Cathcart, Rong Huang, Irene S. Lanham, Elizabeth H. Corder, Shirley E. Poduslo,

Genetic Associations and Epidemiology

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.