title: Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese.
abstract: OBJECTIVE
  The purpose of this study was to evaluate the association between the intronic expansion of a trinucleotide repeat (TNR) in the TCF4 gene and Fuchs' endothelial corneal dystrophy (FECD) in a Japanese population.
  
  
  METHODS
  Forty-seven Japanese FECD patients and 96 age-matched controls were recruited. FECD patients and controls were examined by slit-lamp and noncontact specular microscopy. The repeat length was determined by direct sequencing and short tandem repeat assay of PCR-amplified DNA and Southern blotting of unamplified DNA.
  
  
  RESULTS
  A TNR expansion, defined as >50 CTG repeats in the TCF4 gene was identified in 12 of 47 FECD cases (26%) and 0 of 96 controls (0%; P < 0.001). Sensitivity and specificity in this study were 26% and 100%, respectively. The clinical characteristics of FECD patients with TNR expansion were not distinct from those without TNR expansion.
  
  
  CONCLUSIONS
  These findings show for the first time in a Japanese population the association of the TNR expansion in TCF4 with FECD. In contrast to Caucasian cohorts in whom the TNR expansion is present in most patients with FECD, a CTG expansion is present in a minority of Japanese subjects, indicating other genetic variants as common causes of phenotypically identical disease in this population.
authors.affiliation: Department of Genomic Medical Sciences Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Masakazu
authors.initials: M
authors.lastname: Nakano
authors.affiliation: Department of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyotanabe, Japan 3Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Okumura
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Nakagawa
authors.affiliation: Department of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyotanabe, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Koizumi
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Ikeda
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Morio
authors.initials: M
authors.lastname: Ueno
authors.affiliation: Department of Medical Statistics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Kengo
authors.initials: K
authors.lastname: Yoshii
authors.affiliation: Department of Genomic Medical Sciences Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Adachi
authors.affiliation: Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States.
authors.forename: Ross A
authors.initials: RA
authors.lastname: Aleff
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States.
authors.forename: Malinda L
authors.initials: ML
authors.lastname: Butz
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States.
authors.forename: W Edward
authors.initials: WE
authors.lastname: Highsmith
authors.affiliation: Department of Genomic Medical Sciences Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Tashiro
authors.affiliation: Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States.
authors.forename: Eric D
authors.initials: ED
authors.lastname: Wieben
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Shigeru
authors.initials: S
authors.lastname: Kinoshita
authors.affiliation: Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States.
authors.forename: Keith H
authors.initials: KH
authors.lastname: Baratz
mesh_terms: D000368:Aged; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics* / Q000378:metabolism; D015139:Blotting, Southern; D004247:DNA / Q000235:genetics*; D005260:Female; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns; D007564:Japan; D008297:Male; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D000073940:Transcription Factor 4; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D019680:Trinucleotide Repeat Expansion
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C532096:TCF4 protein, human; D000073940:Transcription Factor 4; D014157:Transcription Factors; D004247:DNA