title: Association of transcription factor 4 (TCF4) and protein tyrosine phosphatase, receptor type G (PTPRG) with corneal dystrophies in southern Chinese.
abstract: 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 with corneal dystrophies of southern Chinese.
authors.affiliation: Department of Ophthalmology & Visual Science, The Chinese University of Hong Kong .
authors.forename: Kai Jie
authors.initials: KJ
authors.lastname: Wang
authors.forename: Vishal
authors.initials: V
authors.lastname: Jhanji
authors.forename: Jianhuan
authors.initials: J
authors.lastname: Chen
authors.forename: Ricky Wai-Kei
authors.initials: RW
authors.lastname: Law
authors.forename: Alfred Tai-Shing
authors.initials: AT
authors.lastname: Leung
authors.forename: Mingzhi
authors.initials: M
authors.lastname: Zhang
authors.forename: Ningli
authors.initials: N
authors.lastname: Wang
authors.forename: Chi-Pui
authors.initials: CP
authors.lastname: Pang
authors.forename: Gary Hin-Fai
authors.initials: GH
authors.lastname: Yam
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D002681:China; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D005260:Female; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D054633:Receptor-Like Protein Tyrosine Phosphatases, Class 5 / Q000235:genetics*; D000073940:Transcription Factor 4; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C532096:TCF4 protein, human; D000073940:Transcription Factor 4; D014157:Transcription Factors; C516850:PTPRG protein, human; D054633:Receptor-Like Protein Tyrosine Phosphatases, Class 5
keywords: Chinese; corneal dystrophy; protein tyrosine phosphatase; receptor type G; transcription factor 4