THE STUDY OF GENETIC MARKERS ASSOCIATED WITH PRIMARY ENDOTHELIAL CORNEAL DYSTROPHY (FUCHS)

Abstract

Purpose. To assess the frequency of the marker alleles at single polymorphisms rs613872, rs17595731 and CTG18.1 trinucleotide repeat expansion in Russian patients with Fuchs’ endothelial corneal dystrophy (FECD).Material and methods. This study included 78 FECD patients. Single nucleotide polymorphisms were genotyped using Sanger sequencing and the number of trinucleotide repeats was determined by a combination of short tandem repeat assay and triplet repeat primed PCR assay (TP-PCR) (Triplet Primed Polymerase Chain Reaction).Results. At least one marker allele was found 74.4% of FECD patients. One rs613872 marker allele was detected in 66.7% of FECD patients, and simultaneously two alleles – in 6.4%. The rs17595731 genotype G/C was present in 12.8% of FECD patients. Monoallelic expansion of the CTG18.1 was detected in 62.8% of FECD patients, and biallelic – in 3.9%. Hence, the distribution of rs613872, rs17595731 and CTG18.1 marker alleles in Russian FECD patients was similar to those reported for European and American FECD populations.Conclusion. The present paper for the first time assessed the incidence of marker alleles in single nucleotide polymorphisms rs613872 and rs17595731 as well as the expansion of trinucleotide repetitions CTG18.1 in Russian FECD patients. Our study showed that the combination of the two markers rs613872 and rs17595731 allows detecting 74.4% of FECD patients, and thereat, the marker rs613872 makes the greatest contribution to the total value of the sensitivity of the test.

Keywords

• fuchs’ primary endothelial corneal dystrophy
• molecular markers
• tcf4
• short tandem repeats
• tp-tcr