A variant rs613872 in TCF4 gene is responsible for the higher risk for Fuchs endothelial corneal dystrophy development- the results of study in Polish patients

Purpose The aim of the study was to investigate the connection between rs613872 polymorphism in TCF4 gene and Fuchs Endothelial Corneal Dystrophy (FECD), and evaluation of TCF4 gene expression within corneas of patients with FECD and individuals of Polish population control group. Methods Genomic DNA was extracted from peripheral blood. Polymorphism rs613872 was genotyped in 227 subjects with FECD and 312 controls using real-time PCR and TaqMan sonds. Total RNA was isolated from Descemet's membranes, which were stripped during endothelial keratoplasty performed in patients with FECD (n = 24) and from fragments of donors’ corneas unused for transplantation (n = 22). The difference in TCF4 gene expression was estimated by quantitative method PCR. Results The distribution of genotypes TT, GT, GG in control group was 74%, 23.4%, 2.6% and in FECD patients 21.6%, 64.8%, 13.7%, respectively. The rate of alleles T and G in patients’ group was 245/454 (54%) and 209/454 (46%). In control subjects the results were 535/624 (85.7%) and 89/624 (14.3%). Allele G was much more common in patients with FECD compared to control group (OR = 5.13, 95%CI: 3.84–6.86, χ2 = 132.63, p < 0.0001). Within corneas from patients with FECD the tendency to increased TCF4 gene expression was observed in comparison to the control group, but the disparity was not statistically significant. Conclusions The results of our investigations revealed the rs613872 variant in TCF4 gene to be significant associated with FECD in Polish patients. The influence of changing expression of TCF4 gene for FECD development requires the further studies.