ArticleEuropean journal of human genetics : EJHG2012
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
42 citing papers in PubMed, 3 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.Frontiers in medicine · 2023Pooled it
- Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.BMC ophthalmology · 2015Pooled it
- Association of common variants in TCF4 and PTPRG with Fuchs' corneal dystrophy: a systematic review and meta-analysis.PloS one · 2014Pooled it
- Review
- Comprehensive identification of dysregulated extracellular matrix molecules in the corneal endothelium of patients with Fuchs endothelial corneal dystrophy.Scientific reports · 2025Article
- [Pathogenesis of Fuchs endothelial corneal dystrophy, the fibrillar layer and individualized treatment].Die Ophthalmologie · 2024Article
- The Ins and Outs of Clusterin: Its Role in Cancer, Eye Diseases and Wound Healing.International journal of molecular sciences · 2023Review
- Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish population.BMC ophthalmology · 2023Article
- MicroRNA of Epithelial to Mesenchymal Transition in Fuchs' Endothelial Corneal Dystrophy.Genes · 2022Review
- Clusterin, other extracellular chaperones, and eye disease.Progress in retinal and eye research · 2022Review
- A Comprehensive Review of Receptor-Type Tyrosine-Protein Phosphatase Gamma (PTPRG) Role in Health and Non-Neoplastic Disease.Biomolecules · 2022Review
- Impact ofVision (Basel, Switzerland) · 2021Article
- Diseases of the corneal endothelium.Experimental eye research · 2021Review
- Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion.Investigative ophthalmology & visual science · 2021Article
- Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.Progress in retinal and eye research · 2021Review
- Therapeutic Lessons to be Learned From the Role of Complement Regulators as Double-Edged Sword in Health and Disease.Frontiers in immunology · 2020Review
- Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish.Human genetics · 2019Article
- The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.Molecular diagnosis & therapy · 2019Review
- REVIEW: Current understanding of the pathogenesis of Fuchs' endothelial corneal dystrophy.Molecular vision · 2019Review
- Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.Investigative ophthalmology & visual science · 2018Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fuchs' endothelial dystrophy (FED) is a disease affecting the corneal endothelium. Recent studies reported significant association of polymorphisms in the TCF4 (transcription factor 4) gene, and a borderline association of PTPRG (protein tyrosine phosphatase, receptor type, G) variants with late-onset FED in Caucasians from the United States. Association of TCF4 has also been reported in the Chinese population. We aimed to determine association of the reported polymorphisms in TCF4 and PTPRG, and association of polymorphisms in the candidate genes ZEB1 (zinc-finger E-box binding homoebox 1), COL8A2 (collagen, type VIII, alpha 2), TGFBI (transforming growth factor, β-induced) and CLU (clusterin) in Australian cases. We also compared the expression of TGFBI and CLU proteins between FED and normal whole corneas. In all, 30 single-nucleotide polymorphisms (SNPs) from the candidate genes were genotyped in 103 cases and 275 controls. Each SNP and haplotype was assessed for association with the disease. SNP analysis identified an association of TCF4 (rs613872 (P=5.25 × 10(-15), OR=4.05), rs9954153 (P=3.37 × 10(-7), OR=2.58), rs2286812 (P=4.23 × 10(-6), OR=2.55) and rs17595731 (P=3.57 × 10(-5), OR=3.79)), CLU (rs17466684; P=0.003, OR=1.85) and one haplotype of TGFBI SNPs (P=0.011, OR=2.29) with FED in Caucasian Australians. No evidence for genetic association of PTPRG, ZEB1 and COL8A2 was found. Immunohistochemistry showed differential expression of CLU and TGFBI proteins in FED-affected compared with normal corneas. In conclusion, variation in TCF4, CLU and TGFBI, but not PTPRG, ZEB1 and COL8A2 genes are associated with FED in Caucasian Australian cases. Differential expression of CLU and TGFBI proteins in FED-affected corneas provides novel insights into the disease mechanism.
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