TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy.
Andreas VibergIda Maria WestinIrina GolovlevaBerit ByströmPublished in: Acta ophthalmologica (2021)
In northern Sweden, the FECD phenotype is associated with (CTG)n expansion in the TCF4 gene, with nearly 90% of patients being hetero- or homozygous for (CTG)n expansion over 50 repeats. Furthermore, the severity of FECD was associated with the repeat length in the TCF4 gene. Ocular surgery might act as an environmental factor explaining the clinical disease in FECD without a repeat expansion in TCF4.
Keyphrases
- end stage renal disease
- ejection fraction
- genome wide
- minimally invasive
- copy number
- newly diagnosed
- chronic kidney disease
- peritoneal dialysis
- endothelial cells
- coronary artery bypass
- gene expression
- patient reported outcomes
- risk assessment
- dna methylation
- transcription factor
- climate change
- coronary artery disease
- human health