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The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

Cholesterol 25-Hydroxylase on Chromosome 10q Is a Susceptibility Gene for Sporadic Alzheimer’s Disease

Papassotiropoulos, Andreas, Lambert, Jean-Charles, Wavrant-De Vrièze, Fabienne, Wollmer, M. Axel, von der Kammer, Heinz, Streffer, Johannes R., Maddalena, Alessia, Huynh, Kim-Dung, Wolleb, Sibylle, Lütjohann, Dieter, Schneider, Brigitte, Thal, Dietmar R., Grimaldi, Luigi M.E., Tsolaki, Magdalini, Kapaki, Elisabeth, Ravid, Rivka, Konietzko, Uwe, Hegi, Thomas, Pasch, Thomas, Jung, Hans, Braak, Heiko, Amouyel, Philippe, Rogaev, Evgeny I., Hardy, John, Hock, Christoph, Nitsch, Roger M.·2005·Neurodegenerative Diseases
DOI 10.1159/000090362
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Abstract

Alzheimer’s disease (AD) is the most common cause of dementia. It is characterized by β-amyloid (Aβ) 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, CH25H χ 2, CH25H χ 3 and CH25H χ 4; CSF levels of the cholesterol precursor lathosterol were higher in carriers of the CH25H χ 4 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 Aβ deposits in carriers of CH25H χ 4 and CH25H χ 3 haplotypes, whereas no Aβ deposits were present in CH25H χ 2 carriers. Together, these results are compatible with a role of CH25H χ 4 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 Aβ deposition.

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Crossref · 10.1159/000090362

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3 of 3 references verified0 citation errors · 0 not checkable

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  • An association of CH25H with Alzheimer's disease was first reported in a hippocampal microarray study of AD brain tissue and further suggested by an AlzGene meta-analysis for a sporadic AD population and other AD patient-based independent systematic analyses.

    “An association of CH25H with AD was first reported in a hippocampal microarray study of AD brain tissue [53] and further suggested by an AlzGene meta-analysis for a sporadic AD population [54] and other AD patient-based independent systematic analyses [55–57].”

    From 25-Hydroxycholesterol amplifies microglial IL-1β production in an apoE isoform-dependent manner (2020) · cites this paper as [54]

  • CH25H is located on chromosome 10q23, a region strongly linked to AD.

    “CH25H is located on chromosome 10q23, a region strongly linked to AD [54].”

    From 25-Hydroxycholesterol amplifies microglial IL-1β production in an apoE isoform-dependent manner (2020) · cites this paper as [54]

  • A significant association of rs13500 'T' allele and haplotypes in the CH25H promoter with the risk of developing AD and with different rates of Aβ/amyloid deposition was previously reported in a large scale AlzGene meta-analysis.

    “In a large scale AlzGene meta-analysis including 1282 AD patients and 1312 controls from five independent populations (French, Russian, USA, Swiss, Mediterranean), a significant association of rs13500 ‘T’ allele and haplotypes in the CH25H promoter was previously reported to be associated with the risk of developing AD and with different rates of Aβ/amyloid deposition [54].”

    From 25-Hydroxycholesterol amplifies microglial IL-1β production in an apoE isoform-dependent manner (2020) · cites this paper as [54]

Citations

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Research works printed but not linked: 27

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Metadata

Authors
Papassotiropoulos, A., Lambert, J.-C., Wavrant-De Vrièze, F., Wollmer, M. A., von der Kammer, H., Streffer, J. R., Maddalena, A., Huynh, K.-D., Wolleb, S., Lütjohann, D., Schneider, B., Thal, D. R., Grimaldi, L. M. E., Tsolaki, M., Kapaki, E., Ravid, R., Konietzko, U., Hegi, T., Pasch, T., Jung, H., Braak, H., Amouyel, P., Rogaev, E. I., Hardy, J., Hock, C., & Nitsch, R. M.
Venue
Neurodegenerative Diseases
Publisher
S. Karger AG
Published
2005
Volume
2
Issue
5
Pages
233-241
ISSN
  • 1660-2854
  • 1660-2862
DOI
10.1159/000090362
Cited by
51
References
3
Language
en
Licence

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