B&B Faculty Yi-Ju Li is one of three senior and corresponding authors for an article “Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy” that has been published in Nature Communications on March 30, 2017.
This study, which included more than 5,400 people, helped isolate the genetic risk factors associated with Fuchs endothelial corneal dystrophy (FECD) which is a hereditary disease of the corneal endothelium that leads to vision loss. It affects 4% of population above the age of 40 years in the US with higher prevalence in women. To date no effective treatments or prevention exists, with the exception of costly corneal transplants. Genetics contribution to FECD is well accepted due to strong familial clustering. This study is the first one utilizing a large sample size of 2075 FECD cases and 3342 controls to identify three novel genetic loci (KANK4, LAMC1, and LINC00970/ATP1B1) for FECD as well as observed an overwhelming effect of the established TCF4 locus. Furthermore, this is also the first time to report genes with differential sex-specific effect which may explain the gender difference in FECD.
Professor Li was one of key members initiated Fuchs Genetics Consortium in 2010. She has actively involved in this GWAS project with collaborators, primarily from Duke Molecular Physiology Institute, Case-Western Reserve University and University of California at San Diego. The findings of this study will open another array of research directions for FECD. Professor Li started working on FECD genetics since the project initiated in 2004 by late Dr. Golden Klintworth at Duke Eye Center. She has published the TCF4 gene association with FECD, and also linked FECD to mitochondrial variants previously.
Nature Communications is a peer-reviewed open access scientific journal published by the Nature Publishing Group since 2010. It covers the natural sciences, including physics, chemistry, Earth sciences, and biology.