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Genome-wide association study of corneal dystrophy uncovers novel risk loci and enables improved polygenic prediction of Fuchs endothelial corneal dystrophy

2026-02-15 genetic and genomic medicine Title + abstract only
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ObjectiveTo identify risk loci for Fuchs endothelial corneal dystrophy (FECD) and improve a genetic risk prediction model. DesignGenome-wide association study (GWAS), polygenic risk score (PRS) construction, and TCF4 CTG18.1 short tandem repeat (STR) length inference. ParticipantsThe study included 7,316 Europeans (EUR) with FECD or related corneal dystrophy phenotypes and 1,588,467 controls from the UK Biobank, All of Us, FinnGen, and the Million Veteran Program. Two independent EUR FECD coho...

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