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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2006-8-15
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pubmed:abstractText |
Alzheimer's disease (AD) is the most common cause of dementia. It is characterized by beta-amyloid (A beta) plaques, neurofibrillary tangles and the degeneration of specifically vulnerable brain neurons. We observed high expression of the cholesterol 25-hydroxylase (CH25H) gene in specifically vulnerable brain regions of AD patients. CH25H maps to a region within 10q23 that has been previously linked to sporadic AD. Sequencing of the 5' region of CH25H revealed three common haplotypes, CH25Hchi2, CH25Hchi3 and CH25Hchi4; CSF levels of the cholesterol precursor lathosterol were higher in carriers of the CH25Hchi4 haplotype. In 1,282 patients with AD and 1,312 healthy control subjects from five independent populations, a common variation in the vicinity of CH25H was significantly associated with the risk for sporadic AD (p = 0.006). Quantitative neuropathology of brains from elderly non-demented subjects showed brain A beta deposits in carriers of CH25Hchi4 and CH25Hchi3 haplotypes, whereas no A beta deposits were present in CH25Hchi2 carriers. Together, these results are compatible with a role of CH25Hchi4 as a putative susceptibility factor for sporadic AD; they may explain part of the linkage of chromosome 10 markers with sporadic AD, and they suggest the possibility that CH25H polymorphisms are associated with different rates of brain A beta deposition.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1660-2854
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pubmed:author |
pubmed-author:AmouyelPhilippeP,
pubmed-author:BraakHeikoH,
pubmed-author:GrimaldiLuigi M ELM,
pubmed-author:HardyJohnJ,
pubmed-author:HegiThomasT,
pubmed-author:HockChristophC,
pubmed-author:HuynhKim-DungKD,
pubmed-author:KapakiElisabethE,
pubmed-author:KonietzkoUweU,
pubmed-author:LambertJean-CharlesJC,
pubmed-author:LutjohannDieterD,
pubmed-author:MaddalenaAlessiaA,
pubmed-author:NitschRoger MRM,
pubmed-author:PapassotiropoulosAndreasA,
pubmed-author:PaschThomasT,
pubmed-author:RavidRivkaR,
pubmed-author:RogaevEvgeny IEI,
pubmed-author:SchneiderBrigitteB,
pubmed-author:StrefferJohannes RJR,
pubmed-author:ThalDietmar RDR,
pubmed-author:TsolakiMagdaliniM,
pubmed-author:Wavrant-De VrièzeFabienneF,
pubmed-author:WollebSibylleS,
pubmed-author:WollmerM AxelMA,
pubmed-author:YunHH,
pubmed-author:von der KammerHeinzH
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pubmed:copyrightInfo |
Copyright 2005 S. Karger AG, Basel.
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pubmed:issnType |
Print
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pubmed:volume |
2
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
233-41
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:16909003-5' Untranslated Regions,
pubmed-meshheading:16909003-Aged,
pubmed-meshheading:16909003-Alleles,
pubmed-meshheading:16909003-Alzheimer Disease,
pubmed-meshheading:16909003-Amyloid beta-Peptides,
pubmed-meshheading:16909003-Brain,
pubmed-meshheading:16909003-Cholesterol,
pubmed-meshheading:16909003-Chromosomes, Human, Pair 10,
pubmed-meshheading:16909003-Female,
pubmed-meshheading:16909003-Gene Expression Regulation, Enzymologic,
pubmed-meshheading:16909003-Genetic Markers,
pubmed-meshheading:16909003-Genotype,
pubmed-meshheading:16909003-Haplotypes,
pubmed-meshheading:16909003-Humans,
pubmed-meshheading:16909003-Male,
pubmed-meshheading:16909003-Plaque, Amyloid,
pubmed-meshheading:16909003-Polymorphism, Single Nucleotide,
pubmed-meshheading:16909003-RNA, Messenger,
pubmed-meshheading:16909003-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:16909003-Risk,
pubmed-meshheading:16909003-Steroid Hydroxylases
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pubmed:year |
2005
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pubmed:articleTitle |
Cholesterol 25-hydroxylase on chromosome 10q is a susceptibility gene for sporadic Alzheimer's disease.
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pubmed:affiliation |
Division of Psychiatry Research, University of Zurich, Zurich, Switzerland. papas@bli@unizh.ch
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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