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Research Article

Mitochondrial DNA Variants of Respiratory Complex I that Uniquely Characterize Haplogroup T2 Are Associated with Increased Risk of Age-Related Macular Degeneration

  • John Paul SanGiovanni equal contributor mail,

    equal contributor Contributed equally to this work with: John Paul SanGiovanni, Dan E. Arking

    jpsangio@post.harvard.edu

    Affiliation: National Eye Institute (NEI)/National Institutes of Health (NIH), Bethesda, Maryland, United States of America

    X
  • Dan E. Arking equal contributor,

    equal contributor Contributed equally to this work with: John Paul SanGiovanni, Dan E. Arking

    Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America

    X
  • Sudha K. Iyengar,

    Affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America

    X
  • Michael Elashoff,

    Affiliation: CardioDx, Palo Alto, California, United States of America

    X
  • Traci E. Clemons,

    Affiliation: The EMMES Corp., Rockville, Maryland, United States of America

    X
  • George F. Reed,

    Affiliation: National Eye Institute (NEI)/National Institutes of Health (NIH), Bethesda, Maryland, United States of America

    X
  • Alice K. Henning,

    Affiliation: The EMMES Corp., Rockville, Maryland, United States of America

    X
  • Theru A. Sivakumaran,

    Affiliation: Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America

    X
  • Xuming Xu,

    Affiliation: Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, Connecticut, United States of America

    X
  • Andrew DeWan,

    Affiliation: Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, Connecticut, United States of America

    X
  • Elvira Agrón,

    Affiliation: National Eye Institute (NEI)/National Institutes of Health (NIH), Bethesda, Maryland, United States of America

    X
  • Elena Rochtchina,

    Affiliation: Centre for Vision Research, Department of Ophthalmology, Westmead Millennium Institute, University of Sydney, Sydney, Australia

    X
  • Carolyn M. Sue,

    Affiliation: University of Sydney Kolling Institute for Medical Research, Sydney, Australia

    X
  • Jie Jin Wang,

    Affiliation: Centre for Vision Research, Department of Ophthalmology, Westmead Millennium Institute, University of Sydney, Sydney, Australia

    X
  • Paul Mitchell,

    Affiliation: Centre for Vision Research, Department of Ophthalmology, Westmead Millennium Institute, University of Sydney, Sydney, Australia

    X
  • Josephine Hoh,

    Affiliation: Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, Connecticut, United States of America

    X
  • Peter J. Francis,

    Affiliation: Macular Degeneration Center, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States of America

    X
  • Michael L. Klein,

    Affiliation: Macular Degeneration Center, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States of America

    X
  • Emily Y. Chew,

    Affiliation: National Eye Institute (NEI)/National Institutes of Health (NIH), Bethesda, Maryland, United States of America

    X
  • Aravinda Chakravarti

    Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America

    X
  • Published: May 12, 2009
  • DOI: 10.1371/journal.pone.0005508

About the Authors

John Paul SanGiovanni, George F. Reed, Elvira Agrón, Emily Y. Chew
National Eye Institute (NEI)/National Institutes of Health (NIH), Bethesda, Maryland, United States of America
Dan E. Arking, Aravinda Chakravarti
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America
Sudha K. Iyengar, Theru A. Sivakumaran
Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America
Traci E. Clemons, Alice K. Henning
The EMMES Corp., Rockville, Maryland, United States of America
Xuming Xu, Andrew DeWan, Josephine Hoh
Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, Connecticut, United States of America
Elena Rochtchina, Jie Jin Wang, Paul Mitchell
Centre for Vision Research, Department of Ophthalmology, Westmead Millennium Institute, University of Sydney, Sydney, Australia
Peter J. Francis, Michael L. Klein
Macular Degeneration Center, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States of America
Michael Elashoff
CardioDx, Palo Alto, California, United States of America
Carolyn M. Sue
University of Sydney Kolling Institute for Medical Research, Sydney, Australia

Corresponding Author

Email: jpsangio@post.harvard.edu

Competing Interests

Aravinda Chakravarti is a paid member of the Scientific Advisory Board of Affymetrix, a role that is managed by the Committee on Conflict of Interest of the Johns Hopkins University School of Medicine.

Author Contributions

Conceived and designed the experiments: JPS DEA SKI ME TEC JH PJF MK EYC AC. Performed the experiments: DEA SKI TAS XX AD CMS. Analyzed the data: JPS DEA ME TEC EA ER PJF. Contributed reagents/materials/analysis tools: JPS DEA SKI TEC GFR AKH ER CMS JJW PM JH PJF MK EYC AC. Wrote the paper: JPS DEA SKI ME TEC GFR AKH EA JJW PM JH PJF MK EYC AC. Constructed original AREDS phenotype datasets: AKH.