A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

@article{Jnsson2012AMI,
  title={A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline},
  author={T. J{\'o}nsson and J. Atwal and S. Steinberg and Jon Snaedal and P. Jonsson and S. Bjornsson and H. Stef{\'a}nsson and P. Sulem and D. Gudbjartsson and Janice A. Maloney and K. Hoyte and Amy Gustafson and Y. Liu and Yanmei Lu and Tushar R. Bhangale and R. Graham and J. Huttenlocher and G. Bjornsdottir and O. Andreassen and E. J{\"o}nsson and A. Palotie and T. Behrens and O. Magnusson and A. Kong and U. Thorsteinsdottir and R. Watts and K. Stef{\'a}nsson},
  journal={Nature},
  year={2012},
  volume={488},
  pages={96-99}
}
The prevalence of dementia in the Western world in people over the age of 60 has been estimated to be greater than 5%, about two-thirds of which are due to Alzheimer’s disease. [...] Key Method Here, to search for low-frequency variants in the amyloid-β precursor protein (APP) gene with a significant effect on the risk of Alzheimer’s disease, we studied coding variants in APP in a set of whole-genome sequence data from 1,795 Icelanders. We found a coding mutation (A673T) in the APP gene that protects against…Expand
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