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

Change history

A minor error relating to the rs63750847 variant in ref. 15 was corrected.

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Acknowledgements

We would like to thank the NHLBI GO Exome Sequencing Project and its ongoing studies, which produced and provided exome variant calls for comparison: the Lung GO Sequencing Project (HL-102923), the WHI Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926) and the Heart GO Sequencing Project (HL-103010).

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Authors and Affiliations

  1. deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland ,
    Thorlakur Jonsson, Stacy Steinberg, Hreinn Stefansson, Patrick Sulem, Daniel Gudbjartsson, Johanna Huttenlocher, Gyda Bjornsdottir, Olafur T. Magnusson, Augustine Kong, Unnur Thorsteinsdottir & Kari Stefansson
  2. Genentech, 1 DNA Way, South San Francisco, 94080, California, USA
    Jasvinder K. Atwal, Janice Maloney, Kwame Hoyte, Amy Gustafson, Yichin Liu, Yanmei Lu, Tushar Bhangale, Robert R. Graham, Timothy W. Behrens & Ryan J. Watts
  3. Department of Geriatrics, Landspitali University Hospital, 101 Reykjavik, Iceland,
    Jon Snaedal, Palmi V. Jonsson & Sigurbjorn Bjornsson
  4. Department of Medical Genetics, Institute for Human Genetics, 72026 Tübingen, Germany,
    Johanna Huttenlocher
  5. Department of Psychiatry, Ullevål University Hospital and Institute of Psychiatry, University of Oslo, N-0407 Oslo, Norway,
    Ole A. Andreassen
  6. Department of Clinical Neuroscience, HUBIN project, Karolinska Institutet and Hospital, SE-171 76 Stockholm, Sweden,
    Erik G. Jönsson
  7. Department of Medical Genetics, University of Helsinki, 00014 Helsinki, Finland,
    Aarno Palotie
  8. University of Iceland, Faculty of Medicine, 101 Reykjavik, Iceland ,
    Palmi V. Jonsson, Unnur Thorsteinsdottir & Kari Stefansson

Authors

  1. Thorlakur Jonsson
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  2. Jasvinder K. Atwal
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  3. Stacy Steinberg
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  4. Jon Snaedal
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  5. Palmi V. Jonsson
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  6. Sigurbjorn Bjornsson
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  7. Hreinn Stefansson
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  8. Patrick Sulem
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  9. Daniel Gudbjartsson
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  10. Janice Maloney
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  11. Kwame Hoyte
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  12. Amy Gustafson
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  13. Yichin Liu
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  14. Yanmei Lu
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  15. Tushar Bhangale
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  16. Robert R. Graham
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  17. Johanna Huttenlocher
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  18. Gyda Bjornsdottir
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  19. Ole A. Andreassen
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  20. Erik G. Jönsson
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  21. Aarno Palotie
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  22. Timothy W. Behrens
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  23. Olafur T. Magnusson
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  24. Augustine Kong
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  25. Unnur Thorsteinsdottir
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  26. Ryan J. Watts
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  27. Kari Stefansson
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Contributions

The study was designed and results were interpreted by T.J., J.K.A., H.S., R.J.W. and K.S. Sequence data analysis was carried out by T.J., S.S., P.S., A.K., T.B., R.R.G., T.W.B. and D.G. Subject recruitment, phenotype analysis and biological material collection was organized and carried out by J.S., P.V.J., S.B., G.B., O.A.A., E.G.J. and A.P. Sequencing and genotyping was supervised by J.H., O.T.M. and U.T. Cell line experiments and BACE1 cleavage assays were carried out and analysed by J.K.A., J.M., K.H., Y. Lu, Y. Liu, A.G. and R.J.W. The paper was drafted by T.J., J.K.A., R.J.W. and K.S. All authors contributed to the final version of the paper.

Corresponding author

Correspondence toKari Stefansson.

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Competing interests

Authors from deCODE and Genentech are employees of deCODE genetics, ehf and Genentech, respectively.

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Jonsson, T., Atwal, J., Steinberg, S. et al. A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline.Nature 488, 96–99 (2012). https://doi.org/10.1038/nature11283

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