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 × 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.
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 × 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.
Authors: Naoki Okumura; Ryousuke Hayashi; Masakazu Nakano; Kei Tashiro; Kengo Yoshii; Ross Aleff; Malinda Butz; Edward W Highsmith; Eric D Wieben; Michael P Fautsch; Keith H Baratz; Yuya Komori; Emi Ueda; Makiko Nakahara; Julia Weller; Theofilos Tourtas; Ursula Schlötzer-Schrehardt; Friedrich Kruse; Noriko Koizumi Journal: Cornea Date: 2019-07 Impact factor: 2.651
Authors: Chao Xing; Xin Gong; Imran Hussain; Chiea-Chuen Khor; Donald T H Tan; Tin Aung; Jodhbir S Mehta; Eranga N Vithana; V Vinod Mootha Journal: Invest Ophthalmol Vis Sci Date: 2014-10-08 Impact factor: 4.799
Authors: Abraham Kuot; Alex W Hewitt; Kim Griggs; Sonja Klebe; Richard Mills; Vishal Jhanji; Jamie E Craig; Shiwani Sharma; Kathryn P Burdon Journal: Eur J Hum Genet Date: 2012-01-11 Impact factor: 4.246