Bryan R Gorman, Michael Francis, Cari L Nealon, Christopher W Halladay, Nalvi Duro, Kyriacos Markianos, Giulio Genovese, Pirro G Hysi, Hélène Choquet, Natalie A Afshari, Yi-Ju Li, J Michael Gaziano, Adriana M Hung, Wen-Chih Wu, Paul B Greenberg, Saiju Pyarajan, Jonathan H Lass, Neal S Peachey, Sudha K Iyengar
Fuchs endothelial corneal dystrophy (FECD) is a leading indication for corneal transplantation, but its molecular etiology remains poorly understood. We performed genome-wide association studies (GWAS) of FECD in the Million Veteran Program followed by multi-ancestry meta-analysis with the previous largest FECD GWAS, for a total of 3970 cases and 333,794 controls. We confirm the previous four loci, and identify eight novel loci: SSBP3, THSD7A, LAMB1, PIDD1, RORA, HS3ST3B1, LAMA5, and COL18A1. We further confirm the TCF4 locus in GWAS for admixed African and Hispanic/Latino ancestries and show an enrichment of European-ancestry haplotypes at TCF4 in FECD cases...
April 6, 2024: Communications Biology