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

Author

Listed:
  • Carlos Cruchaga

    (Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
    Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue)

  • Celeste M. Karch

    (Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
    Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue)

  • 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
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA)

  • 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
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA)

  • 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
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA)

  • Dena G. Hernandez

    (UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA)

  • Michelle K. Lupton

    (Institute of Psychiatry, King's College London, 16 De Crespigny Park, London SE5 8AF, UK
    Neuroimaging Genetics, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia)

  • 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
    Center for Epidemiologic Studies, Utah State University)

  • JoAnn T. Tschanz

    (Center for Epidemiologic Studies, Utah State University
    Utah State University)

  • Maria C. Norton

    (Center for Epidemiologic Studies, Utah State University
    Utah State University
    Utah State University)

  • Ronald G. Munger

    (Utah State University
    Dietetics, and Food Sciences, 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
    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
    Clínica Universidad de Navarra, School of Medicine, University of Navarra Avenida Pío XII, 36. 31008 Pamplona, Spain
    CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III)

  • 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
    Alzheimer’s Disease Research Center, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA
    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
    Cambridge Institute for Medical Research, University of Cambridge, Hills Road, Cambridge CB2 0XY, UK)

  • Nigel Cairns

    (Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue
    Pathology and Immunology, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA)

  • John C. Morris

    (Pathology and Immunology, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
    Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
    Knight ADRC, 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
    Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue
    Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA
    Knight ADRC, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA)

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.

Suggested Citation

  • 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 & Ta, 2014. "Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease," Nature, Nature, vol. 505(7484), pages 550-554, January.
    • Handle: RePEc:nat:nature:v:505:y:2014:i:7484:d:10.1038_nature12825
    DOI: 10.1038/nature12825
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    Citations

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    Cited by:

    1. Zoë P. Van Acker & Anika Perdok & Ruben Hellemans & Katherine North & Inge Vorsters & Cedric Cappel & Jonas Dehairs & Johannes V. Swinnen & Ragna Sannerud & Marine Bretou & Markus Damme & Wim Annaert, 2023. "Phospholipase D3 degrades mitochondrial DNA to regulate nucleotide signaling and APP metabolism," Nature Communications, Nature, vol. 14(1), pages 1-21, December.
    2. Amanda L. Gavin & Deli Huang & Tanya R. Blane & Therese C. Thinnes & Yusuke Murakami & Ryutaro Fukui & Kensuke Miyake & David Nemazee, 2021. "Cleavage of DNA and RNA by PLD3 and PLD4 limits autoinflammatory triggering by multiple sensors," Nature Communications, Nature, vol. 12(1), pages 1-14, December.

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