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- Johansson, Annica, 1969, et al.
(författare)
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CYP46A1 Variants Interact with Age and APOE to Influence CSF Aβ42 and Phospho-Tau Levels in Alzheimer's Disease
- 2004
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Ingår i: The 9th International Conference on Alzheimer's Disease (ICAD), Philadelphia, Pennsylvania, USA, 20-25 July 2004.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Recent studies have suggested that variants of CYP46A1, encoding cholesterol 24-hydroxylase (CYP46), confer risk to Alzheimer's disease (AD), a prospect substantiated by evidence of genetic association with several quantitative traits related to AD pathology, including cerebrospinal fluid (CSF) levels of the 42 amino-acid cleavage product of β-amyloid (Aβ42) 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, which include approximately 400 patients with measures of CSF Aβ42 and phospho-tau protein levels. Tests of association in case-control models revealed limited evidence that CYP46A1 variants contribute to AD risk across these samples. However, models testing for potential effects upon CSF measures suggested 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 ε4 carriers for both CSF Aβ42 (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 observed associations. Results provide an important independent replication of previous findings, supporting the existence of CYP46A1 sequence variants that contribute to variability in β-amyloid metabolism.
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- Johansson, Annica, 1969, et al.
(författare)
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Increased frequency of a new polymorphism in the cell division cycle 2 (cdc2) gene in patients with Alzheimer's disease and frontotemporal dementia.
- 2003
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Ingår i: Neuroscience letters. - : Elsevier BV. - 0304-3940. ; 340:1, s. 69-73
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Tidskriftsartikel (refereegranskat)abstract
- Recent studies show linkage between Alzheimer's disease (AD) and two loci on chromosome 10. The cell division cycle 2 (cdc2) gene is located close to one of the chromosome 10 markers, and is a candidate gene for AD since it is involved in the pathogenesis of AD. We sequenced coding exons and flanking intronic sequences and the promoter region on the cdc2 gene and found three new single nucleotide polymorphisms (SNPs). We analyzed 272 Caucasian AD cases, 160 controls and 70 cases with frontotemporal dementia (FTD) for these SNPs. Homozygosity for one of the SNPs (Ex6+7I/D) was more frequent in both AD and FTD cases than in controls. In the combined tauopathy (AD and FTD) group the odds ratio (OR) was 1.77 (95% CI 1.19-2.63) for the Ex6+7II genotype. Our findings suggest that the Ex6+7I allele is associated with tauopathies, both AD and FTD.
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- Johansson, Annica, 1969, et al.
(författare)
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Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease.
- 2004
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Ingår i: Human genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 114:6, s. 581-7
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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- Lundin, Henrik, et al.
(författare)
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ADC imperfections in multiple antenna wireless systems - An experimental study
- 2004
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Ingår i: 9th IMEKO Workshop on ADC Modeling and Testing, IWADC 2004, Held Together with the 13th IMEKO TC4 Symposium on Measurements for Research and Industrial Applications. - : IMEKO-International Measurement Federation Secretariat. - 9781634391856 ; , s. 84-89
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Konferensbidrag (refereegranskat)abstract
- This paper investigates some of the effects that ADC imperfections may have on wireless communication systems. First, an experimental communication system for wireless multiple-input multiple-output (MIMO) is described. In this test bed, an ADC behavioural model has been implemented. The resulting performance of the communication system, in terms of bit error rate, is assessed when the parameters of the ADC model are altered. The results show that, for this system, the ADC resolution is the key parameter while the non-linearity errors are of minor importance.
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- McCaddon, Andrew, et al.
(författare)
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Transcobalamin polymorphism and serum holo-transcobalamin in relation to Alzheimer's disease
- 2004
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Ingår i: Dementia and Geriatric Cognitive Disorders. - : S. Karger AG. - 1420-8008 .- 1421-9824. ; 17:3, s. 215-221
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Tidskriftsartikel (refereegranskat)abstract
- Isoforms of the vitamin B<sub>12</sub> carrier protein transcobalamin (TC) might influence its cellular availability and contribute to the association between disrupted single-carbon metabolism and Alzheimer’s disease (AD). We therefore investigated the relationships between the TC 776C>G (Pro259Arg) genetic polymorphism, total serum cobalamin and holo-TC levels, and disease onset in 70 patients with clinically diagnosed AD and 74 healthy elderly controls. TC 776C>G polymorphism was also determined for 94 histopathologically confirmed AD patients and 107 controls. Serum holo-TC levels were significantly higher in TC 776C homozygotes (p = 0.04). Kaplan-Meier survival functions differed between homozygous genotypes (Cox’s F-Test F(42, 46) = 2.1; p = 0.008) and between 776C homozygotes and heterozygotes (Cox’s F test F(46, 108) = 1.7; p = 0.02). Proportionately fewer TC 776C homozygotes appear to develop AD at any given age, but this will require confirmation in a longitudinal study.
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- Strandhagen, Elisabeth, 1960, et al.
(författare)
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The apolipoprotein E polymorphism and the cholesterol-raising effect of coffee
- 2004
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Ingår i: Lipids Health Dis. - 1476-511X. ; 3
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The response of serum cholesterol to diet may be affected by the apolipoprotein E (APOE) epsilon2/epsilon3/epsilon4 polymorphism, which also is a significant predictor of variation in the risk of coronary heart disease (CHD) and CHD death. Here, we test the hypothesis that the APOE polymorphism may modulate the cholesterol-raising effect of coffee. OBJECTIVE: We determined the effect of a coffee abstention period and a daily intake of 600 mL coffee on serum cholesterol and triglycerides with respect to the APOE polymorphism. DESIGN: 121 healthy, non-smoking men (22%) and women (78%) aged 29-65 years, took part in a study with four intervention periods: 1 and 3) a coffee free period of three weeks, 2 and 4) 600 mL coffee/day for four weeks. RESULTS: APOE epsilon2 positive individuals had significantly lower total cholesterol concentration at baseline (4.68 mmol/L and 5.28 mmol/L, respectively, p = 0.01), but the cholesterol-raising effect of coffee was not influenced significantly by APOE allele carrier status. CONCLUSIONS: The APOE epsilon 2 allele is associated with lower serum cholesterol concentration. However, the APOE polymorphism does not seem to influence the cholesterol-raising effect of coffee.
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