Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: The Rotterdam Study
✍ Scribed by Roks, G. ;Cruts, M. ;Houwing-Duistermaat, J.J. ;Dermaut, B. ;Serneels, S. ;Havekes, L.M. ;Hofman, A. ;Breteler, M.M.B. ;Van Broeckhoven, C. ;van Duijn, C.M.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 58 KB
- Volume
- 114
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Abstract
The apolipoprotein E (APOE) gene is involved in lipid transport. A common polymorphism in this gene with the APOE*2, APOE*3, and APOE*4 alleles influences plasma levels of apolipoprotein E and cholesterol. Besides its role in lipid transport, the APOE*4 allele is a genetic risk factor for Alzheimer disease (AD). Recently, a polymorphism in the APOE promoter region was found to be involved in plasma apolipoprotein E levels and was found associated with AD. We studied the effect of this −491A/T promoter polymorphism on plasma apolipoprotein E levels and risk for AD in a population‐based case‐control study. We found that there was a modest but statistically significant effect of the −491A/T polymorphism on plasma apolipoprotein E levels independent of the APOE genotype. The lowest plasma levels were measured for the AA genotype, highest levels for the TT genotype, and intermediate levels for the heterozygotes. There was a small effect of the −491 AA genotype on AD risk that disappeared after adjusting for APOE genotypes. Our data suggest that the −491A/T polymorphism has an APOE genotype‐independent effect on plasma apolipoprotein E levels but no APOE‐independent effect on AD risk. © 2002 Wiley‐Liss, Inc.