Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States

• Published in: Ophthalmic genetics 2013-06, Vol.34 (1-2), p.32-34
• Main Authors: Stamler, John F., Roos, Ben R., Wagoner, Michael D., Goins, Ken M., Kitzmann, Anna S., Riley, Janet B., Stone, Edwin M., Fingert, John H.
• Format: Article
• Language: English
• Subjects: Adult; Association Study; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics; FECD; Fuchs' Endothelial Dystrophy - genetics; Gene Frequency; Genetics; Genotyping Techniques; Humans; Iowa; Polymorphism, Single Nucleotide; TCF4; Transcription Factor 4; Transcription Factors - genetics
• ISSN: 1381-6810; 1744-5094
• DOI: 10.3109/13816810.2012.726396

Purpose: To determine the role of the single nucleotide polymorphism (SNP) (rs613872) in the TCF4 gene in Fuchs endothelial corneal dystrophy (FECD) in patients from Iowa. Methods: A cohort of 82 patients with FECD and 163 normal control subjects from Iowa were genotyped at the SNP rs613872 using a real-time allelic discrimination assay. Results: The frequencies of the alleles of rs613872 were compared between FECD patients and control subjects. A highly significant association (p-value = 2.96 × 10−10) was detected between this SNP and FECD. Comparison of the genotypes of SNP rs613872 between FECD patients and control subjects produced a p-value of 2.43 × 10−10. Conclusion: Prior reports have shown that SNP rs613872 in the TCF4 gene is highly associated with FECD. Our study confirms this association and shows that the TCF4 gene has an important role in the pathogenesis of corneal disease in patients from Iowa.