title: Association of common variants in TCF4 and PTPRG with Fuchs' corneal dystrophy: a systematic review and meta-analysis.
abstract: OBJECTIVE
  A meta-analysis of TCF4 and PTPRG gene variants in Fuchs' corneal dystrophy (FCD).
  
  
  CONCLUSIONS
  To identify novel genetic markers in patients with FCD in different ethnic populations.
  
  
  METHODS
  MEDLINE and EMBASE were searched for eligible genetic studies on TCF4 and PTPRG in FCD. Odds ratios (OR) and 95% confidence intervals (CI) of each single-nucleotide polymorphism (SNP) in allelic, dominant and recessive models were estimated using fixed-effect model if I2<50% in the test for heterogeneity, otherwise the random effects model was used.
  
  
  RESULTS
  Thirty-three records were obtained, with 8 being suitable for meta-analysis, which included five SNPs in TCF4 and two in PTPRG. There were 1610 FCD patients and 1565 controls tested for TCF4 rs613872. This SNP was strongly associated with FCD in Caucasians (P = 5.0×10-106), with the risk allele G conferring an OR of 3.95 (95% CI: 3.49-4.46). A further 4 TCF4 SNPs (rs17595731, rs2286812, rs618869 and rs9954153) were also significantly associated with FCD in Caucasians (P<10-8). However, we found no SNP associated with FCD in Chinese. In addition, there was no significant association between FCD and PTPRG.
  
  
  CONCLUSIONS
  TCF4 rs613872 is strongly associated with FCD in Caucasians but not in Chinese, which may suggest ethnic diversity in FCD SNP associations. SNPs in PTPRG were not associated with FCD in Caucasians or Chinese populations. Results of this meta-analysis indicate the need for larger-scale and multi-ethnic genetic studies on FCD to further explore the associated gene variants and their roles on the mechanism and genetic basis of FCD.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Prince of Wales hospital, Hong Kong, China; Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Lawrence C M
authors.initials: LC
authors.lastname: Lau
authors.affiliation: Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Li
authors.initials: L
authors.lastname: Ma
authors.affiliation: Department of Ophthalmology and Visual Sciences, Prince of Wales hospital, Hong Kong, China; Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Alvin L
authors.initials: AL
authors.lastname: Young
authors.affiliation: Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Shi Song
authors.initials: SS
authors.lastname: Rong
authors.affiliation: Department of Ophthalmology and Visual Sciences, Prince of Wales hospital, Hong Kong, China; Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Vishal
authors.initials: V
authors.lastname: Jhanji
authors.affiliation: Department of Ophthalmology and Visual Sciences, Prince of Wales hospital, Hong Kong, China; Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Marten E
authors.initials: ME
authors.lastname: Brelen
authors.affiliation: Department of Ophthalmology and Visual Sciences, Prince of Wales hospital, Hong Kong, China; Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Chi Pui
authors.initials: CP
authors.lastname: Pang
authors.affiliation: Department of Ophthalmology and Visual Sciences, Prince of Wales hospital, Hong Kong, China; Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Li Jia
authors.initials: LJ
authors.lastname: Chen
mesh_terms: D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D016022:Case-Control Studies; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D054633:Receptor-Like Protein Tyrosine Phosphatases, Class 5 / Q000235:genetics*; D000073940:Transcription Factor 4; D014157:Transcription Factors / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D005819:Genetic Markers; C532096:TCF4 protein, human; D000073940:Transcription Factor 4; D014157:Transcription Factors; C516850:PTPRG protein, human; D054633:Receptor-Like Protein Tyrosine Phosphatases, Class 5