Journal
BRAIN RESEARCH
Volume 1344, Issue -, Pages 185-191Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.brainres.2010.04.073
Keywords
Alzheimer disease; Single nucleotide polymorphism; HMGCR; Promoter activity; Genetic association; Cholesterol
Categories
Funding
- Swedish Research Council
- Heart-Lung Foundation
- Swedish Brain Foundation
- Swedish Brain Power, Stockholm County Council [562183]
- Swedish Council for Working Life and Social Research
- Wallenberg Foundation
- Stohnes Foundation
- Gamla Tjanarinnor
- Swedish Alzheimer Foundation
- Centre for Health Care Science at Karolinska Institutet
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Variations in genes associated with cholesterol homeostasis have been reported to modify the risk of developing Alzheimer disease (AD). To date there have been few investigations into variations in genes directly involved in cholesterol biosynthesis and AD. We investigated the influence of the -911C>A polymorphism (rs3761740) in the hydroxymethyl-glutaryl CoA reductase (HMGCR) gene promoter on basal and regulated transcription, plasma cholesterol levels and the association with AD. Under in vitro conditions the A allele was found to be significantly more responsive to SREBP-2 mediated regulation than the C allele. In an age and sex matched case-control study, the genotype distribution and allele frequency of this polymorphism were not associated with AD (OR = 1.03; 95% CI=0.72-1.48). However, we did find evidence supporting an interaction between the HMGCR A allele, the APOE E4 allele and an altered risk of AD (OR = 2.41; 95% CI = 0.93-6.22). (C) 2010 Elsevier B.V. All rights reserved.
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