replication of tcf4 through association and linkage studies in late-onset fuchs endothelial corneal dystrophy复制tcf4通过协会和连杆的研究晚发性fuchs内皮角膜营养不良.pdfVIP

Replication of TCF4 through Association and Linkage Studies in Late-Onset Fuchs Endothelial Corneal Dystrophy 1,2. 2. 2 2 3 2 Yi-Ju Li *, Mollie A. Minear , Jacqueline Rimmler , Bei Zhao , Elmer Balajonda , Michael A. Hauser , 3 4 4 5 4 R. Rand Allingham , Allen O. Eghrari , S. Amer Riazuddin , Nicholas Katsanis , John D. Gottsch , Simon G. Gregory2, Gordon K. Klintworth3,6, Natalie A. Afshari3 1 Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, North Carolina, United States of America, 2 Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, United States of America, 3 Duke University Eye Center, Duke University Medical Center, Durham, North Carolina, United States of America, 4 Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America, 5 Center for Human Disease Modeling, Duke University, Durham, North Carolina, United States of America, 6 Department of Pathology, Duke University Medical Center, Durham, North Carolina, United States of America Abstract Fuchs endothelial corneal dystrophy (FECD) is a common, late-onset disorder of the corneal endothelium. Although progress has been made in understanding the genetic basis of FECD by studying large families in which the phenotype is transmitted in an autosomal dominant fashion, a recently reported genome-wide association study identified common alleles at a locus on chromosome 18 near TCF4 which confer susceptibility to FECD. Here, we report the findings of our independ