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={Thorl{\'a}kur J{\'o}nsson and Jasvinder K. Atwal and Stacy Steinberg and J{\'o}n Snaedal and Palmi V. Jonsson and Sigurbjorn Bjornsson and Hreinn Stef{\'a}nsson and Patrick Sulem and Daniel Fannar Gudbjartsson and Janice A. Maloney and Kwame Hoyte and Amy Gustafson and Yichin Liu and Yanmei Lu and Tushar R. Bhangale and Robert R. Graham and Johanna Huttenlocher and Gyda Bjornsdottir and Ole Andreas Andreassen and Erik G. J{\"o}nsson and Aarno Palotie and Timothy W. Behrens and Olafur T Magnusson and Augustine Kong and Unnur Thorsteinsd{\'o}ttir and Ryan J. Watts and K{\'a}ri 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…
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