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Association study of cholesterol-related genes in Alzheimer's disease
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences. (Geriatrics)
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2007 (English)In: Neurogenetics, ISSN 1364-6745, E-ISSN 1364-6753, Vol. 8, no 3, 179-188 p.Article in journal (Refereed) Published
Abstract [en]

Alzheimer’s disease (AD) is a genetically complex disorder, and several genes related to cholesterol metabolism have been reported to contribute to AD risk. To identify further AD susceptibility genes, we have screened genes that map to chromosomal regions with high logarithm of the odds scores for AD in full genome scans and are related to cholesterol metabolism. In a European screening sample of 115 sporadic AD patients and 191 healthy control subjects, we analyzed single nucleotide polymorphisms in 28 cholesterol-related genes for association with AD. The genes HMGCS2, FDPS, RAFTLIN, ACAD8, NPC2, and ABCG1 were associated with AD at a significance level of P ≤ 0.05 in this sample. Replication trials in five independent European samples detected associations of variants within HMGCS2, FDPS, NPC2, or ABCG1 with AD in some samples (P = 0.05 to P = 0.005). We did not identify a marker that was significantly associated with AD in the pooled sample (n = 2864). Stratification of this sample revealed an APOE-dependent association of HMGCS2 with AD (P = 0.004). We conclude that genetic variants investigated in this study may be associated with a moderate modification of the risk for AD in some samples.

Place, publisher, year, edition, pages
2007. Vol. 8, no 3, 179-188 p.
Keyword [en]
ABCG1, FDPS, HMGCS2, NPC2, Polymorphism
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-16058DOI: 10.1007/s10048-007-0087-zISI: 000247971400003PubMedID: 17387528OAI: oai:DiVA.org:uu-16058DiVA: diva2:43829
Available from: 2008-04-14 Created: 2008-04-14 Last updated: 2011-01-28Bibliographically approved

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Ingelsson, MartinKilander, LenaHedlund, MarieGiedraitis, VilmantasGlaser, AnnaLannfelt, Lars
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