title: Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States.
abstract: OBJECTIVE
  To determine the role of the single nucleotide polymorphism (SNP) (rs613872) in the TCF4 gene in Fuchs endothelial corneal dystrophy (FECD) in patients from Iowa.
  
  
  METHODS
  A cohort of 82 patients with FECD and 163 normal control subjects from Iowa were genotyped at the SNP rs613872 using a real-time allelic discrimination assay.
  
  
  RESULTS
  The frequencies of the alleles of rs613872 were compared between FECD patients and control subjects. A highly significant association (p-value = 2.96 × 10(-10)) was detected between this SNP and FECD. Comparison of the genotypes of SNP rs613872 between FECD patients and control subjects produced a p-value of 2.43 × 10(-10).
  
  
  CONCLUSIONS
  Prior reports have shown that SNP rs613872 in the TCF4 gene is highly associated with FECD. Our study confirms this association and shows that the TCF4 gene has an important role in the pathogenesis of corneal disease in patients from Iowa.
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA.
authors.forename: John F
authors.initials: JF
authors.lastname: Stamler
authors.forename: Ben R
authors.initials: BR
authors.lastname: Roos
authors.forename: Michael D
authors.initials: MD
authors.lastname: Wagoner
authors.forename: Ken M
authors.initials: KM
authors.lastname: Goins
authors.forename: Anna S
authors.initials: AS
authors.lastname: Kitzmann
authors.forename: Janet B
authors.initials: JB
authors.lastname: Riley
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
authors.forename: John H
authors.initials: JH
authors.lastname: Fingert
mesh_terms: D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics*; D005787:Gene Frequency; D060005:Genotyping Techniques; D006801:Humans; D007484:Iowa; D020641:Polymorphism, Single Nucleotide; 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