Role of the TCF4 gene intronic variant in normal variation of corneal endothelium

MacKey, David A., Warrington, Nicole M., Hewitt, Alex W., Oates, Sandra K., Yazar, Seyhan, Soloshenko, Alla, Crawford, Geoffrey J., Mountain, Jenny A. and Pennell, Craig E. (2012) Role of the TCF4 gene intronic variant in normal variation of corneal endothelium. Cornea, 31 2: 162-166. doi:10.1097/ICO.0b013e318226155f

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Author MacKey, David A.
Warrington, Nicole M.
Hewitt, Alex W.
Oates, Sandra K.
Yazar, Seyhan
Soloshenko, Alla
Crawford, Geoffrey J.
Mountain, Jenny A.
Pennell, Craig E.
Title Role of the TCF4 gene intronic variant in normal variation of corneal endothelium
Journal name Cornea   Check publisher's open access policy
ISSN 0277-3740
Publication date 2012-01-01
Year available 2012
Sub-type Article (original research)
DOI 10.1097/ICO.0b013e318226155f
Open Access Status DOI
Volume 31
Issue 2
Start page 162
End page 166
Total pages 5
Place of publication Philadelphia, PA United States
Publisher Lippincott Williams and Wilkins
Language eng
Subject 2731 Ophthalmology
Abstract PURPOSE: To identify early features of Fuchs endothelial dystrophy (FED) in carriers of the rs613872(G) transcription factor 4 gene (TCF4) aged 20 to 21 years. METHODS: Prospective cohort study of people aged 20 to 21 years previously enrolled in the Western Australia Pregnancy (Raine) Cohort. Specular microscopy was performed using a noncontact specular microscopy (EM-3000; Tomey, Nagoya, Japan). Individual genotype data were extracted from the genome-wide Illumina 660 Quad Array. Analysis of the association between the rs613872 risk allele in TCF4 and specular microscopic measurements was conducted. RESULTS: Association between the rs613872 risk allele and corneal endothelial cell density (CD) as well as the coefficient of variation in cell shape was the main outcome measure. Genotype and specular microscopic data were available for a total of 445 participants (46% women). The median CD was 2851 and 2850 cells per square millimeter in the right and left eyes, respectively. No significant differences between intereye variability in endothelial CD were seen (right eye to left eye correlation = 0.64); however, a significant difference in variability of endothelial CD between men and women was observed (male: OD, 2839 ± 124 cells/mm and OS, 2845 ± 124 cells/mm vs. female: OD, 2838 ± 134 cells/mm and OS, 2842 ± 132 cells/mm; OD, P = 0.0013 and OS, P = 0.0016). Eleven individuals were homozygous for the rs613872 risk allele. We found no association between rs613872 genotype and CD or coefficient of variation. One of 11 homozygous GG individuals was found to have a gutta in 1 sample field on specular microscopy, whereas 2 of 297 TT individuals also had a gutta each in 1 sample field. CONCLUSIONS: We were unable to detect an association between TCF4 rs613872 genotype and the variation in corneal endothelial CD or variation in cell morphology in a healthy young adult population. Copyright
Keyword Birth cohort study
Fuchs endothelial dystrophy
Genetics of corneal endothelium
Genome wide association study
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Diamantina Institute Publications
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