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Research Article

Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma

  • Janey L. Wiggs equal contributor mail,

    equal contributor Contributed equally to this work with: Janey L. Wiggs, Brian L. Yaspan

    janey_wiggs@meei.harvard.edu

    Affiliation: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America

    X
  • Brian L. Yaspan equal contributor,

    equal contributor Contributed equally to this work with: Janey L. Wiggs, Brian L. Yaspan

    Affiliation: Vanderbilt University School of Medicine, Center for Human Genetics Research, Nashville, Tennessee, United States of America

    X
  • Michael A. Hauser,

    Affiliation: Duke University School of Medicine, Durham, North Carolina, United States of America

    X
  • Jae H. Kang,

    Affiliation: Department of Medicine and Channing Laboratory, Brigham and Women's Hospital, Boston, Massachusetts, United States of America

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  • R. Rand Allingham,

    Affiliation: Duke University School of Medicine, Durham, North Carolina, United States of America

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  • Lana M. Olson,

    Affiliation: Vanderbilt University School of Medicine, Center for Human Genetics Research, Nashville, Tennessee, United States of America

    X
  • Wael Abdrabou,

    Affiliation: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America

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  • Bao J. Fan,

    Affiliation: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America

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  • Dan Y. Wang,

    Affiliation: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America

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  • Wendy Brodeur,

    Affiliation: Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, Massachusetts, United States of America

    X
  • Donald L. Budenz,

    Affiliation: Department of Ophthalmology, University of North Carolina School of Medicine, Durham, North Carolina, United States of America

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  • Joseph Caprioli,

    Affiliation: Department of Ophthalmology, University of California Los Angeles, Los Angeles, California, United States of America

    X
  • Andrew Crenshaw,

    Affiliation: Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, Massachusetts, United States of America

    X
  • Kristy Crooks,

    Affiliation: Duke University School of Medicine, Durham, North Carolina, United States of America

    X
  • Elizabeth DelBono,

    Affiliation: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America

    X
  • Kimberly F. Doheny,

    Affiliation: Center for Inherited Disease Research, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America

    X
  • David S. Friedman,

    Affiliation: Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

    X
  • Douglas Gaasterland,

    Affiliation: Eye Doctors of Washington D.C., Washington D.C., United States of America

    X
  • Terry Gaasterland,

    Affiliation: Institute for Genomic Medicine and Marine Biology Research Division, University of California San Diego, San Diego, California, United States of America

    X
  • Cathy Laurie,

    Affiliation: Department of Biostatistics, University of Washington, Seattle, Washington, United States of America

    X
  • Richard K. Lee,

    Affiliation: Department of Ophthalmology, University of Miami, Miami, Florida, United States of America

    X
  • Paul R. Lichter,

    Affiliation: Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America

    X
  • Stephanie Loomis,

    Affiliations: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America, Department of Medicine and Channing Laboratory, Brigham and Women's Hospital, Boston, Massachusetts, United States of America

    X
  • Yutao Liu,

    Affiliation: Duke University School of Medicine, Durham, North Carolina, United States of America

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  • Felipe A. Medeiros,

    Affiliation: Department of Ophthalmology, University of California San Diego, San Diego, California, United States of America

    X
  • Cathy McCarty,

    Affiliation: Essentia Institute of Rural Health, Duluth, Minnesota, United States of America

    X
  • Daniel Mirel,

    Affiliation: Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, Massachusetts, United States of America

    X
  • Sayoko E. Moroi,

    Affiliation: Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America

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  • David C. Musch,

    Affiliations: Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America, Department of Epidemiology, University of Michigan, Ann Arbor, Michigan, United States of America

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  • Anthony Realini,

    Affiliation: Department of Ophthalmology, West Virginia University School of Medicine, Morgantown, West Virginia, United States of America

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  • Frank W. Rozsa,

    Affiliation: Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America

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  • Joel S. Schuman,

    Affiliation: Department of Ophthalmology, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America

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  • Kathleen Scott,

    Affiliation: Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America

    X
  • Kuldev Singh,

    Affiliation: Department of Ophthalmology, Stanford University, Palo Alto, California, United States of America

    X
  • Joshua D. Stein,

    Affiliation: Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America

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  • Edward H. Trager,

    Affiliation: Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America

    X
  • Paul VanVeldhuisen,

    Affiliation: The EMMES Corporation, Rockville, Maryland, United States of America

    X
  • Douglas Vollrath,

    Affiliation: Department of Genetics, Stanford University, Palo Alto, California, United States of America

    X
  • Gadi Wollstein,

    Affiliation: Department of Ophthalmology, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America

    X
  • Sachiko Yoneyama,

    Affiliations: Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America, Department of Epidemiology, University of Michigan, Ann Arbor, Michigan, United States of America

    X
  • Kang Zhang,

    Affiliation: Department of Ophthalmology, University of California San Diego, San Diego, California, United States of America

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  • Robert N. Weinreb,

    Affiliation: Department of Ophthalmology, University of California San Diego, San Diego, California, United States of America

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  • Jason Ernst,

    Affiliations: Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, Massachusetts, United States of America, Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America

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  • Manolis Kellis,

    Affiliations: Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, Massachusetts, United States of America, Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America

    X
  • Tomohiro Masuda,

    Affiliation: Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

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  • Don Zack,

    Affiliation: Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

    X
  • Julia E. Richards,

    Affiliations: Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America, Department of Epidemiology, University of Michigan, Ann Arbor, Michigan, United States of America

    X
  • Margaret Pericak-Vance,

    Affiliation: Department of Human Genetics, University of Miami School of Medicine, Miami, Florida, United States of America

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  • Louis R. Pasquale ,

    Affiliations: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America, Department of Medicine and Channing Laboratory, Brigham and Women's Hospital, Boston, Massachusetts, United States of America

    These authors also contributed equally to this work.

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  • Jonathan L. Haines

    Affiliation: Vanderbilt University School of Medicine, Center for Human Genetics Research, Nashville, Tennessee, United States of America

    These authors also contributed equally to this work.

    X
  • Published: April 26, 2012
  • DOI: 10.1371/journal.pgen.1002654

About the Authors

Janey L. Wiggs, Wael Abdrabou, Bao J. Fan, Dan Y. Wang, Elizabeth DelBono, Stephanie Loomis, Louis R. Pasquale
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America
Brian L. Yaspan, Lana M. Olson, Jonathan L. Haines
Vanderbilt University School of Medicine, Center for Human Genetics Research, Nashville, Tennessee, United States of America
Michael A. Hauser, R. Rand Allingham, Kristy Crooks, Yutao Liu
Duke University School of Medicine, Durham, North Carolina, United States of America
Jae H. Kang, Stephanie Loomis, Louis R. Pasquale
Department of Medicine and Channing Laboratory, Brigham and Women's Hospital, Boston, Massachusetts, United States of America
Wendy Brodeur, Andrew Crenshaw, Daniel Mirel, Jason Ernst, Manolis Kellis
Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, Massachusetts, United States of America
Donald L. Budenz
Department of Ophthalmology, University of North Carolina School of Medicine, Durham, North Carolina, United States of America
Joseph Caprioli
Department of Ophthalmology, University of California Los Angeles, Los Angeles, California, United States of America
Kimberly F. Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America
David S. Friedman, Tomohiro Masuda, Don Zack
Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
Douglas Gaasterland
Eye Doctors of Washington D.C., Washington D.C., United States of America
Terry Gaasterland
Institute for Genomic Medicine and Marine Biology Research Division, University of California San Diego, San Diego, California, United States of America
Cathy Laurie
Department of Biostatistics, University of Washington, Seattle, Washington, United States of America
Richard K. Lee
Department of Ophthalmology, University of Miami, Miami, Florida, United States of America
Paul R. Lichter, Sayoko E. Moroi, David C. Musch, Frank W. Rozsa, Kathleen Scott, Joshua D. Stein, Edward H. Trager, Sachiko Yoneyama, Julia E. Richards
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States of America
Felipe A. Medeiros, Kang Zhang, Robert N. Weinreb
Department of Ophthalmology, University of California San Diego, San Diego, California, United States of America
Cathy McCarty
Essentia Institute of Rural Health, Duluth, Minnesota, United States of America
David C. Musch, Sachiko Yoneyama, Julia E. Richards
Department of Epidemiology, University of Michigan, Ann Arbor, Michigan, United States of America
Anthony Realini
Department of Ophthalmology, West Virginia University School of Medicine, Morgantown, West Virginia, United States of America
Joel S. Schuman, Gadi Wollstein
Department of Ophthalmology, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
Kuldev Singh
Department of Ophthalmology, Stanford University, Palo Alto, California, United States of America
Paul VanVeldhuisen
The EMMES Corporation, Rockville, Maryland, United States of America
Douglas Vollrath
Department of Genetics, Stanford University, Palo Alto, California, United States of America
Jason Ernst, Manolis Kellis
Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America
Margaret Pericak-Vance
Department of Human Genetics, University of Miami School of Medicine, Miami, Florida, United States of America

Corresponding Author

Email: janey_wiggs@meei.harvard.edu

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: JL Wiggs, BL Yaspan, MA Hauser, JH Kang, KF Doheny, C Laurie, D Mirel, D Zack, JE Richards, M Pericak-Vance, LR Pasquale, JL Haines. Performed the experiments: LM Olson, W Abdrabou, BJ Fan, DY Wang, W Brodeur, A Crenshaw, K Crooks, E DelBono, S Loomis, Y Liu, J Ernst, T Masuda. Analyzed the data: JL Wiggs, BL Yaspan, MA Hauser, JH Kang, LM Olson, BJ Fan, A Crenshaw, KF Doheny, C Laurie, S Loomis, D Mirel, DC Musch, P VanVeldhuisen, M Pericak-Vance, LR Pasquale, JL Haines. Contributed reagents/materials/analysis tools: RR Allingham, DL Budenz, J Caprioli, DS Friedman, D Gaasterland, T Gassterland, RK Lee, PR Lichter, FA Medeiros, C McCarty, SE Moroi, A Realini, FW Rozsa, JS Schuman, K Scott, K Singh, JD Stein, EH Trager, D Vollrath, G Wollstein, S Yoneyama, K Zhang, RN Weinreb, M Kellis, D Zack, JL Wiggs, LR Pasquale. Wrote the paper: JL Wiggs, BL Yaspan, MA Hauser, JH Kang, JE Richards, LR Pasquale, JL Haines.