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

• Published in: In vivo (Athens) Vol. 33; no. 3; pp. 963 - 971
• Main Authors: MOSCHOS, MARILITA M., DIAMANTOPOULOU, ANDRIANA, GOULIOPOULOS, NIKOS, DROUTSAS, KONSTANTINOS, BAGLI, ELENI, CHATZISTEFANOU, KLIO, KITSOS, GEORGE, KROUPIS, CHRISTOS
• Format: Journal Article
• Language: English
• Published: Greece International Institute of Anticancer Research 01.05.2019
• Subjects: Aged; Aged, 80 and over; Alleles; Collagen; Collagen Type VIII - genetics; Corneal transplantation; Disease; Edema; Endothelium; Eye surgery; Female; Fuchs' Endothelial Dystrophy - diagnosis; Fuchs' Endothelial Dystrophy - epidemiology; Fuchs' Endothelial Dystrophy - genetics; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Greece - epidemiology; Humans; Male; Mutation; Odds Ratio; Polymorphism; Polymorphism, Genetic; Population Surveillance; Proteins; Sensors; Sequence Analysis, DNA; Transcription Factor 4 - genetics; Transcription factors; Greece; United States > US; Germany; COL8A2; TCF4; polymorphism; Fuchs' endothelial corneal dystrophy
• ISSN: 0258-851X; 1791-7549; 1791-7549
• DOI: 10.21873/invivo.11565

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. 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. 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. We confirmed that rs613872 in the TCF4 gene is strongly and statistically associated with late-onset FECD in a Greek population.