Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

Carlos Cruchaga (), Celeste M. Karch, Sheng Chih Jin, Bruno A. Benitez, Yefei Cai, Rita Guerreiro, Oscar Harari, Joanne Norton, John Budde, Sarah Bertelsen, Amanda T. Jeng, Breanna Cooper, Tara Skorupa, David Carrell, Denise Levitch, Simon Hsu, Jiyoon Choi, Mina Ryten, Celeste Sassi, Jose Bras, J. Raphael Gibbs, Dena G. Hernandez, Michelle K. Lupton, John Powell, Paola Forabosco, Perry G. Ridge, Christopher D. Corcoran, JoAnn T. Tschanz, Maria C. Norton, Ronald G. Munger, Cameron Schmutz, Maegan Leary, F. Yesim Demirci, Mikhil N. Bamne, Xingbin Wang, Oscar L. Lopez, Mary Ganguli, Christopher Medway, James Turton, Jenny Lord, Anne Braae, Imelda Barber, Kristelle Brown, Pau Pastor, Oswaldo Lorenzo-Betancor, Zoran Brkanac, Erick Scott, Eric Topol, Kevin Morgan, Ekaterina Rogaeva, Andrew B. Singleton, John Hardy, M. Ilyas Kamboh, Peter St George-Hyslop, Nigel Cairns, John C. Morris, John S. K. Kauwe and Alison M. Goate
Additional contact information
Carlos Cruchaga: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Celeste M. Karch: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Sheng Chih Jin: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Bruno A. Benitez: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Yefei Cai: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Rita Guerreiro: UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
Oscar Harari: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Joanne Norton: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
John Budde: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Sarah Bertelsen: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Amanda T. Jeng: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Breanna Cooper: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Tara Skorupa: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
David Carrell: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Denise Levitch: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Simon Hsu: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Jiyoon Choi: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
Mina Ryten: UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
Celeste Sassi: UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
Jose Bras: UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
J. Raphael Gibbs: UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
Dena G. Hernandez: UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
Michelle K. Lupton: Institute of Psychiatry, King's College London, 16 De Crespigny Park, London SE5 8AF, UK
John Powell: Institute of Psychiatry, King's College London, 16 De Crespigny Park, London SE5 8AF, UK
Paola Forabosco: Istituto di Genetica delle Popolazioni – CNR, Trav. La Crucca, 3 - Reg. Baldinca - 07100 Li Punti, Sassari, Italy
Perry G. Ridge: Brigham Young University
Christopher D. Corcoran: Utah State University
JoAnn T. Tschanz: Center for Epidemiologic Studies, Utah State University
Maria C. Norton: Center for Epidemiologic Studies, Utah State University
Ronald G. Munger: Utah State University
Cameron Schmutz: Brigham Young University
Maegan Leary: Brigham Young University
F. Yesim Demirci: University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA
Mikhil N. Bamne: University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA
Xingbin Wang: University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA
Oscar L. Lopez: Alzheimer’s Disease Research Center, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA
Mary Ganguli: University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA
Christopher Medway: Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK
James Turton: Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK
Jenny Lord: Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK
Anne Braae: Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK
Imelda Barber: Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK
Kristelle Brown: Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK
Pau Pastor: Neurogenetics Laboratory, Center for Applied Medical Research, University of Navarra, Avenida Pío XII, 55. 31008 Pamplona, Navarra, Spain
Oswaldo Lorenzo-Betancor: Neurogenetics Laboratory, Center for Applied Medical Research, University of Navarra, Avenida Pío XII, 55. 31008 Pamplona, Navarra, Spain
Zoran Brkanac: University of Washington, 325 Ninth Avenue
Erick Scott: The Scripps Research Institute, La Jolla, California 3344 North Torrey Pines Court, La Jolla, California 92037, USA
Eric Topol: The Scripps Research Institute, La Jolla, California 3344 North Torrey Pines Court, La Jolla, California 92037, USA
Kevin Morgan: Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK
Ekaterina Rogaeva: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Avenue, Toronto, Ontario M5T 2S8, Canada
Andrew B. Singleton: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA
John Hardy: UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
M. Ilyas Kamboh: University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA
Peter St George-Hyslop: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Avenue, Toronto, Ontario M5T 2S8, Canada
Nigel Cairns: Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue
John C. Morris: Pathology and Immunology, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
John S. K. Kauwe: Brigham Young University
Alison M. Goate: Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA

Nature, 2014, vol. 505, issue 7484, 550-554

Abstract: Whole-exome sequencing reveals that a rare variant of phospholipase D3 (PLD3(V232M)) segregates with Alzheimer’s disease status in two independent families and doubles risk for the disease in case–control series, and that several other PLD3 variants increase risk for Alzheimer’s disease in African Americans and people of European descent.

Date: 2014
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DOI: 10.1038/nature12825

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