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Variants of CYP46A1...
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Johansson, Annica,1969Karolinska Institutet,Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap, Sektionen för laborativ neurovetenskap,Institute of Clinical Neurosciences, Section of Experimental Neuroscience
(författare)
Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease.
- Artikel/kapitelEngelska2004
Förlag, utgivningsår, omfång ...
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Springer Science and Business Media LLC,2004
Nummerbeteckningar
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LIBRIS-ID:oai:gup.ub.gu.se/95968
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https://gup.ub.gu.se/publication/95968URI
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https://doi.org/10.1007/s00439-004-1107-9DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:1942721URI
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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Recent studies have suggested that variants of CYP46A1, encoding cholesterol 24-hydroxylase (CYP46), confer risk for Alzheimer's disease (AD), a prospect substantiated by evidence of genetic association from several quantitative traits related to AD pathology, including cerebrospinal fluid (CSF) levels of the 42 amino-acid cleavage product of beta-amyloid (Abeta42) and the tau protein. In the present study, these claims have been explored by the genotyping of previously associated markers in CYP46A1 in three independent northern European case-control series encompassing 1323 individuals and including approximately 400 patients with measurements of CSF Abeta42 and phospho-tau protein levels. Tests of association in case-control models revealed limited evidence that CYP46A1 variants contributed to AD risk across these samples. However, models testing for potential effects upon CSF measures suggested a possible interaction of an intronic marker (rs754203) with age and APOE genotype. In stratified analyses, significant effects were evident that were restricted to elderly APOE epsilon4 carriers for both CSF Abeta42 ( P=0.0009) and phospho-tau ( P=0.046). Computational analyses indicate that the rs754203 marker probably does not impact the binding of regulatory factors, suggesting that other polymorphic sites underlie the observed associations. Our results provide an important independent replication of previous findings, supporting the existence of CYP46A1 sequence variants that contribute to variability in beta-amyloid metabolism.
Ämnesord och genrebeteckningar
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MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Psykiatri hsv//swe
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MEDICAL AND HEALTH SCIENCES Clinical Medicine Psychiatry hsv//eng
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Age Factors
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Aged
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Alzheimer Disease
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genetics
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metabolism
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Amyloid beta-Protein
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cerebrospinal fluid
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Analysis of Variance
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Apolipoproteins E
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genetics
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Base Sequence
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Binding Sites
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Case-Control Studies
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DNA Primers
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Enzyme-Linked Immunosorbent Assay
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Europe
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Genetic Variation
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Genotype
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Humans
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Middle Aged
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Peptide Fragments
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cerebrospinal fluid
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Polymorphism
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Single Nucleotide
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genetics
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Sequence Alignment
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Steroid Hydroxylases
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genetics
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tau Proteins
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cerebrospinal fluid
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Dementia
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Katzov, Hagit
(författare)
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Zetterberg, Henrik,1973Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap, Sektionen för laborativ neurovetenskap,Institute of Clinical Neurosciences, Section of Experimental Neuroscience(Swepub:gu)xzethe
(författare)
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Feuk, Lars
(författare)
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Johansson, BooGothenburg University,Göteborgs universitet,Psykologiska institutionen,Department of Psychology(Swepub:gu)xjoboo
(författare)
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Bogdanovic, NenadKarolinska Institutet
(författare)
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Andreasen, NielsKarolinska Institutet
(författare)
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Lenhard, Boris
(författare)
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Brookes, Anthony J
(författare)
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Pedersen, Nancy LKarolinska Institutet
(författare)
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Blennow, Kaj,1958Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap, Sektionen för laborativ neurovetenskap,Institute of Clinical Neurosciences, Section of Experimental Neuroscience(Swepub:gu)xbleka
(författare)
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Prince, Jonathan A
(författare)
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Göteborgs universitetInstitutionen för klinisk neurovetenskap, Sektionen för laborativ neurovetenskap
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Human genetics: Springer Science and Business Media LLC114:6, s. 581-70340-67171432-1203
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Johansson, Annic ...
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Katzov, Hagit
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Zetterberg, Henr ...
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Feuk, Lars
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Johansson, Boo
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Bogdanovic, Nena ...
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visa fler...
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Andreasen, Niels
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Lenhard, Boris
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Brookes, Anthony ...
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Pedersen, Nancy ...
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Blennow, Kaj, 19 ...
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Prince, Jonathan ...
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visa färre...
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Human genetics
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