Natalie A Afshari, Robert P Igo, Nathan J Morris, Dwight Stambolian, Shiwani Sharma, V Lakshmi Pulagam, Steven Dunn, John F Stamler, Barbara J Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R Croasdale, Xuejun Qin, Kathryn P Burdon, S Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A Minear, Jiagang Zhao, Elmer Balajonda, George O Rosenwasser, Keith H Baratz, V Vinod Mootha, Sanjay V Patel, Simon G Gregory, Joan E Bailey-Wilson, Marianne O Price, Francis W Price, Jamie E Craig, John H Fingert, John D Gottsch, Anthony J Aldave, Gordon K Klintworth, Jonathan H Lass, Yi-Ju Li, Sudha K Iyengar
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<5 × 10-8 ): KANK4 rs79742895, LAMC1 rs3768617 and LINC00970/ATP1B1 rs1200114...
March 30, 2017: Nature Communications