Journal Article

E2-2 Protein and Fuchs's Corneal Dystrophy

Branham, Kari, Schmid-Kubista, Katharina E, Tosakulwong, Nirubol, Bailey, Kent R, Abecasis, Goncalo, Swaroop, Anand, Chen, Wei, Heckenlively, John R, Tran, Khoa D, Baratz, Keith H, Edwards, Albert O, Brown, William L, Ryu, Euijung

2010

Overview

In this genomewide association study of age-related corneal dystrophy, there was a significant association with variants of TCF4, which encodes the E2-2 transcription factor. The risk variant of the most strongly associated genetic marker had an odds ratio of approximately 5. Fuchs's corneal dystrophy (FCD) is a progressive, bilateral condition characterized by dysfunction of the corneal endothelium, leading to reduced vision. The prevalence of FCD has been estimated at about 5% among persons over the age of 40 years in the United States. 1 Corneal edema that is associated with FCD may progress after cataract surgery and is the most common indication for the 42,000 corneal transplantations that take place each year in the United States. Enthusiasm for refractive surgery is decreased among patients who are at high risk for FCD. 2 Thus, the ability to diagnose FCD before symptoms develop and knowledge . . .

• Publisher: Massachusetts Medical Society
• Subject: Age / Alleles / Biological and medical sciences / Chromosomes / Chromosomes, Human, Pair 13 / Cornea - pathology / Diseases of cornea, anterior segment and sclera / Endothelium / Eye surgery / Fuchs' Endothelial Dystrophy - genetics / Genetics / Genome-Wide Association Study / Genotype / Humans / Medical sciences / Ophthalmology / Polymorphism, Single Nucleotide / Surgery / TCF Transcription Factors - genetics / Transcription Factor 7-Like 2 Protein