Quantifying prion disease penetrance using large population control cohorts-Reference-Cited by-同舟云学术

Quantifying prion disease penetrance using large population control cohorts

Published:2016-01-20 Issue:322 Volume:8 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Minikel Eric Vallabh¹²³⁴,Vallabh Sonia M.¹³⁴,Lek Monkol¹²,Estrada Karol¹²,Samocha Kaitlin E.¹²³,Sathirapongsasuti J. Fah⁵,McLean Cory Y.⁵,Tung Joyce Y.⁵,Yu Linda P. C.⁵,Gambetti Pierluigi⁶,Blevins Janis⁶,Zhang Shulin⁷,Cohen Yvonne⁶,Chen Wei⁶,Yamada Masahito⁸,Hamaguchi Tsuyoshi⁸,Sanjo Nobuo⁹,Mizusawa Hidehiro¹⁰,Nakamura Yosikazu¹¹,Kitamoto Tetsuyuki¹²,Collins Steven J.¹³,Boyd Alison¹³,Will Robert G.¹⁴,Knight Richard¹⁴,Ponto Claudia¹⁵,Zerr Inga¹⁵,Kraus Theo F. J.¹⁶,Eigenbrod Sabina¹⁶,Giese Armin¹⁶,Calero Miguel¹⁷,de Pedro-Cuesta Jesús¹⁷,Haïk Stéphane¹⁸¹⁹,Laplanche Jean-Louis²⁰,Bouaziz-Amar Elodie²⁰,Brandel Jean-Philippe¹⁸¹⁹,Capellari Sabina²¹²²,Parchi Piero²¹²²,Poleggi Anna²³,Ladogana Anna²³,O’Donnell-Luria Anne H.¹²²⁴,Karczewski Konrad J.¹²,Marshall Jamie L.¹²,Boehnke Michael²⁵,Laakso Markku²⁶,Mohlke Karen L.²⁷,Kähler Anna²⁸,Chambert Kimberly²⁹,McCarroll Steven²⁹,Sullivan Patrick F.²⁷²⁸,Hultman Christina M.²⁸,Purcell Shaun M.³⁰,Sklar Pamela³⁰,van der Lee Sven J.³¹,Rozemuller Annemieke³²,Jansen Casper³²,Hofman Albert³¹,Kraaij Robert³³,van Rooij Jeroen G. J.³³,Ikram M. Arfan³¹,Uitterlinden André G.³¹³³,van Duijn Cornelia M.³¹,Daly Mark J.¹²,MacArthur Daniel G.¹²,

Affiliation:

1. Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA.

2. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

3. Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA.

4. Prion Alliance, Cambridge, MA 02139, USA.

5. Research, 23andMe Inc., Mountain View, CA 94041, USA.

6. National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106, USA.

7. University Hospitals Case Medical Center, Cleveland, OH 44106, USA.

8. Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa 920-8640, Japan.

9. Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.

10. National Center Hospital, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan.

11. Department of Public Health, Jichi Medical University, Shimotsuke 329-0498, Japan.

12. Department of Neurological Science, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.

13. Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Victoria 3010, Australia.

14. National Creutzfeldt-Jakob Disease Research & Surveillance Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

15. National Reference Center for the Surveillance of Human Transmissible Spongiform Encephalopathies, Georg-August-University, Goettingen 37073, Germany.

16. Center for Neuropathology and Prion Research (ZNP), Ludwig-Maximilians-University, Munich 81377, Germany.

17. Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid 28031, Spain.

18. INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, Pierre and Marie Curie University Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Epinière, 75013 Paris, France.

19. Assistance Publique–Hôpitaux de Paris (AP-HP), Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France.

20. AP-HP, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, 75010 Paris, France.

21. Istituto di Ricovero e Cura a Carattere Scientifico, Institute of Neurological Sciences, Bologna 40123, Italy.

22. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40126, Italy.

23. Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome 00161, Italy.

24. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA.

25. Department of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA

26. Department of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio 70210, Finland.

27. Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599, USA.

28. Karolinska Institutet, Stockholm SE-171 77, Sweden.

29. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

30. Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

31. Department of Epidemiology, Erasmus Medical Center (MC), Rotterdam 3000 CA, Netherlands.

32. Dutch Surveillance Centre for Prion Diseases, Department of Pathology, University Medical Center, Utrecht 3584 CX, Netherlands.

33. Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA, Netherlands.

Abstract

Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.

Funder

NIH

Broad Institute NextGen

Prion Alliance

National Science Foundation Graduate Research Fellowship Program

Centers for Disease Control and Prevention

Research Committee of Prion Disease and Slow Virus Infection

Research Committee of Surveillance and Infection Control of Prion Disease of the Ministry of Health, Labour and Welfare of Japan

Institut National de veille Sanitaire

Robert Koch Institute/Federal Ministry of Health

Publisher

American Association for the Advancement of Science (AAAS)