@article {37956,
	title = {TCF4 and COL8A2 Gene Polymorphism Screening in a Greek Population of Late-onset Fuchs Endothelial Corneal Dystrophy},
	journal = {In Vivo},
	volume = {33},
	year = {2019},
	note = {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{\textquoteright} endothelial, 2},
	month = {2019/05//},
	pages = {963 - 971},
	abstract = {BACKGROUND/AIM: Fuchs{\textquoteright} 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},
	keywords = {Aged, Aged,80 and over, Alleles, analysis, Blood, Collagen Type VIII, Diagnosis, Epidemiology, Female, Fuchs{\textquoteright} Endothelial Dystrophy, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, genetics, Genotype, Greece, Humans, Male, Odds Ratio, Polymorphism,Genetic, Population Surveillance, Sequence Analysis,DNA, Transcription Factor 4},
	url = {PM:31028223},
	author = {Moschos,M.M. and Diamantopoulou, A. and Gouliopoulos,N. and Droutsas,K. and Bagli,E. and Chatzistefanou,K. and Kitsos,G. and Kroupis, C.}
}
