Association of TCF4 Gene Polymorphisms with Fuchs' Corneal Dystrophy in the Chinese

PURPOSE. To test the association between TCF4, a gene recently found to confer susceptibility to Fuchs' corneal dystrophy (FCD) in Caucasian populations, and Chinese patients with FCD. METHODS. Fifty-seven Chinese subjects with clinically diagnosed FCD and 121 normal control subjects were recruited. Genomic DNA was extracted and the 18 single nucleotide polymorphisms (SNPs) within TCF4 were genotyped (Sequenom MassArray primer extension system; Sequenom, Inc., San Diego, CA). Statistical association between individual SNPs and FCD was evaluated using 1 df additive genetic models, and verified with 2 df unguided genotype tests of association. P < 0.002 was considered statistically significant after accounting for the 18 SNPs. RESULTS. The affected individuals ranged in age from 48 to 87 years, with an average age of 67 years. There was no statistical difference in the demographic information between the FCD and the control group (mean age of 65.1 years; range, 39-85, P = 0.12). Two SNPs within TCF4 (rs17089887 and rs17089925) were significant experiment-wide (P = 7.34 x 10(-5) and P = 0.00045 respectively) with an increase in disease risk of > 2.3-fold per copy of the risk allele compared with individuals who were wild type. However, the most significantly associated SNP from the original report (rs613872) was not found to be present in Chinese FCD subjects. CONCLUSIONS. Polymorphisms within TCF4, a gene which has been implicated in FCD susceptibility among Europeans, was also found to be strongly associated with FCD in Chinese. (Invest Ophthalmol Vis Sci. 2011; 52: 5573-5578) DOI: 10.1167/iovs.117568