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Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy

Author

Listed:
  • Natalie A. Afshari

    (Shiley Eye Institute, University of California)

  • Robert P. Igo

    (Case Western Reserve University)

  • Nathan J. Morris

    (Case Western Reserve University)

  • Dwight Stambolian

    (University of Pennsylvania)

  • Shiwani Sharma

    (Flinders Medical Centre, Flinders University)

  • V. Lakshmi Pulagam

    (Case Western Reserve University)

  • Steven Dunn

    (Michigan Cornea Consultants, PC)

  • John F. Stamler

    (University of Iowa, College of Medicine)

  • Barbara J. Truitt

    (Case Western Reserve University)

  • Jacqueline Rimmler

    (Duke Molecular Physiology Institute, Duke University Medical Center)

  • Abraham Kuot

    (Flinders Medical Centre, Flinders University)

  • Christopher R. Croasdale

    (Davis Duehr Dean Clinic)

  • Xuejun Qin

    (Duke Molecular Physiology Institute, Duke University Medical Center)

  • Kathryn P. Burdon

    (Flinders Medical Centre, Flinders University
    Menzies Institute for Medical Research, University of Tasmania)

  • S. Amer Riazuddin

    (The Wilmer Eye Institute, Johns Hopkins University School of Medicine)

  • Richard Mills

    (Flinders Medical Centre, Flinders University)

  • Sonja Klebe

    (Flinders Medical Centre, Flinders University
    Flinders Medical Centre, Flinders University)

  • Mollie A. Minear

    (Duke Molecular Physiology Institute, Duke University Medical Center)

  • Jiagang Zhao

    (Shiley Eye Institute, University of California)

  • Elmer Balajonda

    (Duke University Eye Center, Duke University Medical Center)

  • George O. Rosenwasser

    (Central Pennsylvania Eye Institute)

  • Keith H Baratz

    (Mayo Clinic)

  • V. Vinod Mootha

    (University of Texas Southwestern Medical Center)

  • Sanjay V. Patel

    (Mayo Clinic)

  • Simon G. Gregory

    (Duke Molecular Physiology Institute, Duke University Medical Center)

  • Joan E. Bailey-Wilson

    (Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health and Johns Hopkins University)

  • Marianne O. Price

    (Price Vision Group)

  • Francis W. Price

    (Price Vision Group)

  • Jamie E. Craig

    (Flinders Medical Centre, Flinders University)

  • John H. Fingert

    (University of Iowa, College of Medicine)

  • John D. Gottsch

    (The Wilmer Eye Institute, Johns Hopkins University School of Medicine)

  • Anthony J. Aldave

    (Stein Eye Institute, University of California)

  • Gordon K. Klintworth

    (Duke University Eye Center, Duke University Medical Center
    Duke University Medical Center)

  • Jonathan H. Lass

    (Case Western Reserve University
    Case Western Reserve University and University Hospitals Eye Institute)

  • Yi-Ju Li

    (Duke Molecular Physiology Institute, Duke University Medical Center
    Duke University Medical Center)

  • Sudha K. Iyengar

    (Case Western Reserve University
    Case Western Reserve University and University Hospitals Eye Institute)

Abstract

The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiring transplantation, we conducted a genome-wide association study (GWAS) on 1,404 FECD cases and 2,564 controls of European ancestry, followed by replication and meta-analysis, for a total of 2,075 cases and 3,342 controls. We identify three novel loci meeting genome-wide significance (P

Suggested Citation

  • Natalie A. Afshari & Robert P. Igo & Nathan J. Morris & Dwight Stambolian & Shiwani Sharma & V. Lakshmi Pulagam & Steven Dunn & John F. Stamler & Barbara J. Truitt & Jacqueline Rimmler & Abraham Kuot , 2017. "Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy," Nature Communications, Nature, vol. 8(1), pages 1-8, April.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms14898
    DOI: 10.1038/ncomms14898
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