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Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease

(2001) JOURNAL OF NEUROLOGY. 248(11). p.935-939
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Abstract
We have previously reported a significant association between early-onset Alzheimer's disease (EOAD) and an allele in the promoter of presenilin 1 (PSEN1) significantly decreasing PSEN1 expression in vitro. For late-onset Alzheimer's disease (LOAD), numerous studies have reported inconsistent associations with a PSEN1 intronic polymorphism. We therefore hypothesized that linkage disequilibrium between the intronic PSEN1 polymorphism and the functional promoter polymorphism might explain the conflicting reports in LOAD. We analysed both variations in 356 LOAD patients and 230 controls in a population-based case-control study. In addition, we re-analysed all published literature on the PSEN1 intronic polymorphism in a metaanalysis. No significant association was found with the PSEN1 intronic or promoter polymorphism in our case-control sample. In the metaanalysis no major differences between patients and controls were found for the PSEN1 intronic variation. Together, our results do not support a major role for variable expression of PSEN1 in LOAD.
Keywords
NO ASSOCIATION, INTRONIC POLYMORPHISM, VASCULAR DEMENTIA, JAPANESE POPULATION, GENETIC ASSOCIATION, REGULATORY REGION, ROTTERDAM, METAANALYSIS, CHINESE, APOLIPOPROTEIN-E GENOTYPE, meta-analysis, late-onset Alzheimer's disease, presenilin-1, promoter, genetic epidemiology

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MLA
Dermaut, Bart, G Roks, J Theuns, et al. “Variable Expression of Presenilin 1 Is Not a Major Determinant of Risk for Late-onset Alzheimer’s Disease.” JOURNAL OF NEUROLOGY 248.11 (2001): 935–939. Print.
APA
Dermaut, B., Roks, G., Theuns, J., Rademakers, R., Houwing-Duistermaat, J., Serneels, S., Hofman, A., et al. (2001). Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer’s disease. JOURNAL OF NEUROLOGY, 248(11), 935–939.
Chicago author-date
Dermaut, Bart, G Roks, J Theuns, R Rademakers, JJ Houwing-Duistermaat, S Serneels, A Hofman, et al. 2001. “Variable Expression of Presenilin 1 Is Not a Major Determinant of Risk for Late-onset Alzheimer’s Disease.” Journal of Neurology 248 (11): 935–939.
Chicago author-date (all authors)
Dermaut, Bart, G Roks, J Theuns, R Rademakers, JJ Houwing-Duistermaat, S Serneels, A Hofman, MMB Breteler, M Cruts, C Van Broeckhoven, and CM van Duijn. 2001. “Variable Expression of Presenilin 1 Is Not a Major Determinant of Risk for Late-onset Alzheimer’s Disease.” Journal of Neurology 248 (11): 935–939.
Vancouver
1.
Dermaut B, Roks G, Theuns J, Rademakers R, Houwing-Duistermaat J, Serneels S, et al. Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer’s disease. JOURNAL OF NEUROLOGY. 2001;248(11):935–9.
IEEE
[1]
B. Dermaut et al., “Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer’s disease,” JOURNAL OF NEUROLOGY, vol. 248, no. 11, pp. 935–939, 2001.
@article{3201016,
  abstract     = {We have previously reported a significant association between early-onset Alzheimer's disease (EOAD) and an allele in the promoter of presenilin 1 (PSEN1) significantly decreasing PSEN1 expression in vitro. For late-onset Alzheimer's disease (LOAD), numerous studies have reported inconsistent associations with a PSEN1 intronic polymorphism. We therefore hypothesized that linkage disequilibrium between the intronic PSEN1 polymorphism and the functional promoter polymorphism might explain the conflicting reports in LOAD. We analysed both variations in 356 LOAD patients and 230 controls in a population-based case-control study. In addition, we re-analysed all published literature on the PSEN1 intronic polymorphism in a metaanalysis. No significant association was found with the PSEN1 intronic or promoter polymorphism in our case-control sample. In the metaanalysis no major differences between patients and controls were found for the PSEN1 intronic variation. Together, our results do not support a major role for variable expression of PSEN1 in LOAD.},
  author       = {Dermaut, Bart and Roks, G and Theuns, J and Rademakers, R and Houwing-Duistermaat, JJ and Serneels, S and Hofman, A and Breteler, MMB and Cruts, M and Van Broeckhoven, C and van Duijn, CM},
  issn         = {0340-5354},
  journal      = {JOURNAL OF NEUROLOGY},
  keywords     = {NO ASSOCIATION,INTRONIC POLYMORPHISM,VASCULAR DEMENTIA,JAPANESE POPULATION,GENETIC ASSOCIATION,REGULATORY REGION,ROTTERDAM,METAANALYSIS,CHINESE,APOLIPOPROTEIN-E GENOTYPE,meta-analysis,late-onset Alzheimer's disease,presenilin-1,promoter,genetic epidemiology},
  language     = {eng},
  number       = {11},
  pages        = {935--939},
  title        = {Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease},
  url          = {http://dx.doi.org/10.1007/s004150170044},
  volume       = {248},
  year         = {2001},
}

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