Journal article

Association of Transcription Factor 4 (TCF4) and Protein Tyrosine Phosphatase, Receptor Type G (PTPRG) with Corneal Dystrophies in Southern Chinese

Kai Jie Wang, Vishal Jhanji, Jianhuan Chen, Ricky Wai-Kei Law, Alfred Tai-Shing Leung, Mingzhi Zhang, Ningli Wang, Chi-Pui Pang, Gary Hin-Fai Yam



Fuchs' endothelial dystrophy is a common type of posterior CD characterized by the development of gutta in the Descemet membrane. Recently, TCF4 was considered as a major risk gene for European FED cases. However, another recent report has shown that rs613872 was not associated with Singaporean Chinese FEDs. Recent reports indicate the genotypic heterogeneity of FEDs in different ethnic populations. It is thus essential to understand whether these genes affect the occurrence of FEDs and non-Fuchs' CD in the local population. In the present study, we screened several reported SNPs (rs2286812, rs17595731 and rs613827 in TCF4; rs7640737 and rs2292245 in PTPRG) in FED and non-Fuchs' patients wit..

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Awarded by General Research Fund, Hong Kong

Awarded by Natural Science Foundation of Guangdong Province, China

Funding Acknowledgements

Financial support was provided by the General Research Fund, Hong Kong (478609); Lim Por Yen Eye Foundation Endowment Fund and the Natural Science Foundation of Guangdong Province, China (8151503102000019). The author KJW is a recipient of an Action For Vision Ophthalmic Research Grant.