Advertisement
Research Article

Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants

  • Fanggeng Zou equal contributor,

    equal contributor Contributed equally to this work with: Fanggeng Zou, High Seng Chai, Curtis S. Younkin, Mariet Allen

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • High Seng Chai equal contributor,

    equal contributor Contributed equally to this work with: Fanggeng Zou, High Seng Chai, Curtis S. Younkin, Mariet Allen

    Affiliation: Department of Biostatistics, Mayo Clinic, Rochester, Minnesota, United States of America

    X
  • Curtis S. Younkin equal contributor,

    equal contributor Contributed equally to this work with: Fanggeng Zou, High Seng Chai, Curtis S. Younkin, Mariet Allen

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Mariet Allen equal contributor,

    equal contributor Contributed equally to this work with: Fanggeng Zou, High Seng Chai, Curtis S. Younkin, Mariet Allen

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Julia Crook,

    Affiliation: Department of Biostatistics, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • V. Shane Pankratz,

    Affiliation: Department of Biostatistics, Mayo Clinic, Rochester, Minnesota, United States of America

    X
  • Minerva M. Carrasquillo,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Christopher N. Rowley,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Asha A. Nair,

    Affiliation: Department of Biostatistics, Mayo Clinic, Rochester, Minnesota, United States of America

    X
  • Sumit Middha,

    Affiliation: Department of Biostatistics, Mayo Clinic, Rochester, Minnesota, United States of America

    X
  • Sooraj Maharjan,

    Affiliation: Department of Biostatistics, Mayo Clinic, Rochester, Minnesota, United States of America

    X
  • Thuy Nguyen,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Li Ma,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Kimberly G. Malphrus,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Ryan Palusak,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Sarah Lincoln,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Gina Bisceglio,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Constantin Georgescu,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Naomi Kouri,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Christopher P. Kolbert,

    Affiliation: Microarray Core, Mayo Clinic, Rochester, Minnesota, United States of America

    X
  • Jin Jen,

    Affiliation: Microarray Core, Mayo Clinic, Rochester, Minnesota, United States of America

    X
  • Jonathan L. Haines,

    Affiliation: Department of Molecular Physiology and Biophysics and Vanderbilt Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States of America

    X
  • Richard Mayeux,

    Affiliation: Gertrude H. Sergievsky Center, Department of Neurology, and Taub Institute on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, United States of America

    X
  • Margaret A. Pericak-Vance,

    Affiliation: The John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America

    X
  • Lindsay A. Farrer,

    Affiliation: Departments of Biostatistics, Medicine (Genetics Program), Ophthalmology, Neurology, and Epidemiology, Boston University, Boston, Massachusetts, United States of America

    X
  • Gerard D. Schellenberg,

    Affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America

    X
  • Alzheimer's Disease Genetics Consortium,

    Membership of the Alzheimer's Disease Genetics Consortium (ADGC) is provided in the Acknowledgments.

    X
  • Ronald C. Petersen,

    Affiliation: Department of Neurology, Mayo Clinic, Rochester, Minnesota, United States of America

    X
  • Neill R. Graff-Radford,

    Affiliation: Department of Neurology, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Dennis W. Dickson,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Steven G. Younkin,

    Affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Nilüfer Ertekin-Taner mail

    taner.nilufer@mayo.edu

    Affiliations: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America, Department of Neurology, Mayo Clinic, Jacksonville, Florida, United States of America

    X
  • Published: June 07, 2012
  • DOI: 10.1371/journal.pgen.1002707

About the Authors

Fanggeng Zou, Curtis S. Younkin, Mariet Allen, Minerva M. Carrasquillo, Christopher N. Rowley, Thuy Nguyen, Li Ma, Kimberly G. Malphrus, Ryan Palusak, Sarah Lincoln, Gina Bisceglio, Constantin Georgescu, Naomi Kouri, Dennis W. Dickson, Steven G. Younkin, Nilüfer Ertekin-Taner
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America
High Seng Chai, V. Shane Pankratz, Asha A. Nair, Sumit Middha, Sooraj Maharjan
Department of Biostatistics, Mayo Clinic, Rochester, Minnesota, United States of America
Julia Crook
Department of Biostatistics, Mayo Clinic, Jacksonville, Florida, United States of America
Christopher P. Kolbert, Jin Jen
Microarray Core, Mayo Clinic, Rochester, Minnesota, United States of America
Jonathan L. Haines
Department of Molecular Physiology and Biophysics and Vanderbilt Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States of America
Richard Mayeux
Gertrude H. Sergievsky Center, Department of Neurology, and Taub Institute on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, United States of America
Margaret A. Pericak-Vance
The John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America
Lindsay A. Farrer
Departments of Biostatistics, Medicine (Genetics Program), Ophthalmology, Neurology, and Epidemiology, Boston University, Boston, Massachusetts, United States of America
Gerard D. Schellenberg
Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America
Ronald C. Petersen
Department of Neurology, Mayo Clinic, Rochester, Minnesota, United States of America
Neill R. Graff-Radford, Nilüfer Ertekin-Taner
Department of Neurology, Mayo Clinic, Jacksonville, Florida, United States of America

Corresponding Author

Email: taner.nilufer@mayo.edu

Competing Interests

NR Graff-Radford has served as a consultant to Codman and received grant support from Elan Pharmaceutical Research, Pfizer Pharmaceuticals, Medivation, and Forrest. RC Petersen has been a consultant to GE Healthcare and Elan Pharmaceuticals, has served on a data safety monitoring committee for Pfizer and Janssen Alzheimer Immunotherapy, and has provided a CME lecture for Novartis. ADGC Authors: T.D.B. received licensing fees from and is on the speaker's bureau of Athena Diagnostics. M.R.F. receives research funding from BristolMyersSquibb Company, Danone Research, Elan Pharmaceuticals, Eli Lilly, Novartis Pharmaceuticals, OctaPharma AG, Pfizer, and Sonexa Therapeutics; receives honoraria as scientific consultant from Accera, Astellas Pharma US Inc., Baxter, Bayer Pharmaceuticals Corporation, BristolMyersSquibb, Eisai Medical Research, GE Healthcare, Medavante, Medivation, Merck, Novartis Pharmaceuticals, Pfizer, Prana Biotechnology, QR Pharma, The sanofi-aventis Group, and Toyama Chemical; and is speaker for Eisai Medical Research, Forest Laboratories, Pfizer, and Novartis Pharmaceuticals. A.M.G. has research funding from AstraZeneca, Pfizer and Genentech, and has received remuneration for giving talks at Pfizer and Genentech. R.C.P. is on the Safety Monitory Committee of Pfizer (Wyeth) and a consultant to the Safety Monitoring Committee at Janssen Alzheimer's Immunotherapy Program (Elan), to Elan Pharmaceuticals, and to GE Healthcare. R.E.T. is a consultant to Eisai, Japan, in the area of Alzheimer's genetics and a shareholder in, and consultant to, Pathway Genomics, San Diego, CA.

Author Contributions

Conceived and designed the experiments: SG Younkin, N Ertekin-Taner. Performed the experiments: F Zou, MM Carrasquillo, CN Rowley, T Nguyen, L Ma, KG Malphrus, R Palusak, S Lincoln, G Bisceglio, N Kouri, CP Kolbert, J Jen. Analyzed the data: F Zou, HS Chai, CS Younkin, J Crook, VS Pankratz, M Allen, MM Carrasquillo, AA Nair, S Middha, S Maharjan, C Gorgescu, SG Younkin, N Ertekin-Taner. Contributed reagents/materials/analysis tools: Alzheimer's Disease Genetics Consortium, JL Haines, R Mayeux, MA Pericak-Vance, LA Farrer, GD Schellenberg, RC Petersen, NR Graff-Radford, DW Dickson, SG Younkin. Wrote the paper: F Zou, HS Chai, CS Younkin, J Crook, VS Pankratz, M Allen, SG Younkin, N Ertekin-Taner.