1. Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy
- Author
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Kathryn P. Burdon, Marianne O. Price, Natalie A. Afshari, Simon G. Gregory, Jiagang Zhao, S. Amer Riazuddin, Sanjay V. Patel, Elmer Balajonda, Sudha K. Iyengar, Christopher R. Croasdale, Jamie E Craig, Venkateswara Mootha, Gordon K. Klintworth, Barbara Truitt, John F. Stamler, George O D Rosenwasser, Shiwani Sharma, Abraham Kuot, Jonathan H. Lass, Mollie A. Minear, Richard A. Mills, Steven P. Dunn, Sonja Klebe, Keith H. Baratz, John H. Fingert, Anthony J. Aldave, Xuejun Qin, Dwight Stambolian, V. Lakshmi Pulagam, John D. Gottsch, Joan E. Bailey-Wilson, Francis W. Price, Nathan Morris, Yi-Ju Li, Robert P. Igo, and J. B. Rimmler
- Subjects
0301 basic medicine ,Science ,General Physics and Astronomy ,Locus (genetics) ,Genome-wide association study ,Biology ,General Biochemistry, Genetics and Molecular Biology ,Article ,03 medical and health sciences ,0302 clinical medicine ,Risk Factors ,Cornea ,medicine ,Humans ,Genetics ,Multidisciplinary ,Fuchs' Endothelial Dystrophy ,Reproducibility of Results ,General Chemistry ,TCF4 ,eye diseases ,3. Good health ,Transplantation ,Corneal Disorder ,030104 developmental biology ,medicine.anatomical_structure ,ROC Curve ,Genetic Loci ,030221 ophthalmology & optometry ,Etiology ,sense organs ,Fuchs Endothelial Corneal Dystrophy ,Genome-Wide Association Study - 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, Fuchs endothelial corneal dystrophy (FECD) is one of the most common reasons for corneal transplantation, and is known to cluster in families. Here, the authors discover new genetic loci associated with FECD with sex-specific effects and implications for disease mechanism.
- Published
- 2017