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

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, Christopher R. Croasdale, Xuejun Qin, Kathryn P. Burdon, S. Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A. Minear, Jiagang Zhao, Elmer Balajonda, George O. Rosenwasser, Keith H Baratz, V. Vinod Mootha, Sanjay V. Patel, Simon G. Gregory, Joan E. Bailey-Wilson, Marianne O. Price, Francis W. Price, Jamie E. Craig, John H. Fingert, John D. Gottsch, Anthony J. Aldave, Gordon K. Klintworth, Jonathan H. Lass (), Yi-Ju Li () and Sudha K. Iyengar ()
Additional contact information
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
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
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
Jonathan H. Lass: Case Western Reserve University
Yi-Ju Li: Duke Molecular Physiology Institute, Duke University Medical Center
Sudha K. Iyengar: Case Western Reserve University

Nature Communications, 2017, vol. 8, issue 1, 1-8

Abstract: 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

Date: 2017
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DOI: 10.1038/ncomms14898

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