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Li Jia Chen, Lawrence C.M. Lau, Li Ma, Vishal Jhanji, Chi Pui Pang, Alvin L. Young; Association of common variants in TCF4 and PTPRG with Fuchs’ corneal dystrophy: A meta-analysis. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1019.
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To assess the association of common variants in the TCF4 and PTPRG genes with Fuchs’ corneal dystrophy (FCD) using meta-analysis.
MEDLINE and EMBASE were searched for genetic studies on the TCF4 and PTPRG genes in FCD. Publications were reviewed and data extracted by independent reviewers. Odds ratios (OR) and 95% confidence intervals (CI) of each single nucleotide polymorphism (SNP) in the allelic, dominant and recessive models were obtained from meta-analyses using fixed-effect model if I2 <50% in the test for heterogeneity, or otherwise random-effect model.
Thirty-three records were obtained and 8 of them were found eligible for meta-analysis, with 5 SNPs in TCF4 and 2 SNPs in PTPRG. Totally over 1600 FCD cases and 1500 controls have been tested for TCF4 rs613872, which was strongly associated with FCD in Caucasians (P<5.0×10E-10), with the risk allele G conferring an OR of 3.95. Also significantly associated with FCD in Caucasians were 4 TCF4 SNPs, rs17595731, rs2286812, rs618869 and rs9954153 (P<10E-8). However, we found no SNP associated with FCD in Chinese. No significant association was detected between FCD and PTPRG.
TCF4 rs613872 is strongly associated with FCD in Caucasians but not in Chinese, showing ethnic diversities in FCD genetics. SNPs in PTPRG were not associated with FCD. Results of this meta-analysis indicate the need for large-scale and multi-ethnic genetic studies of FCD to ascertain the FCD-associated gene variants.
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