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TCF4 and COL8A2 Gene Polymorphism Screening in a Greek Population of Late-onset Fuchs Endothelial Corneal Dystrophy

Citation:

Moschos MM, Diamantopoulou A, Gouliopoulos N, Droutsas K, Bagli E, Chatzistefanou K, Kitsos G, Kroupis C. TCF4 and COL8A2 Gene Polymorphism Screening in a Greek Population of Late-onset Fuchs Endothelial Corneal Dystrophy. In Vivo [Internet]. 2019;33(3):963 - 971.

Abstract:

BACKGROUND/AIM: Fuchs' endothelial corneal dystrophy (FECD) is a hereditary, progressive, bilateral, and irreversible disorder of the corneal endothelium. The purpose of this study was to develop a novel, accurate and high-throughput real-time polymerase chain reaction (PCR) method and melting-curve analysis in order to genotype the rs613872 polymorphism in the transcription factor 4 (TCF4) gene and to implement it on a well-ascertained sample of 22 Greek FECD patients and 58 healthy individuals, age- and sex-matched. PATIENTS AND METHODS: DNA was extracted from blood samples, which were screened with the DNA sequencing method in order to detect the g.31753T>G/p.L450W (rs8035192) and g.31767C>A/p.Q455K (rs8035191) mutations in a COL8A2 genomic region. RESULTS: TCF4 risk G allele frequency increased to 48% in FECD patients compared to 17% in healthy-subjects [OR=4.82 (95% CI=1.98-11.73)]. No p.L450W and p.Q455K COL8A2 gene mutations were detected. CONCLUSION: We confirmed that rs613872 in the TCF4 gene is strongly and statistically associated with late-onset FECD in a Greek population

Notes:

IS - 1791-7549 (Electronic) IS - 0258-851X (Print) IS - 0258-851X (Linking) LA - eng PT - Journal Article RN - 0 (COL8A2 protein, human) RN - 0 (Collagen Type VIII) RN - 0 (TCF4 protein, human) RN - 0 (Transcription Factor 4) RN - Corneal dystrophy, Fuchs' endothelial, 2

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