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

@article{Dermaut2001VariableEO,
  title={Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's Disease},
  author={Bart Dermaut and Gerwin Roks and Jessie Theuns and Rosa Rademakers and Jeanine J. Houwing-Duistermaat and Sally Serneels and Albert Hofman and Monique M. B. Breteler and Marc Cruts and Christine Van Broeckhoven and Cornelia M. van Duijn},
  journal={Journal of Neurology},
  year={2001},
  volume={248},
  pages={935-939}
}
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… CONTINUE READING

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