Veretelnyk S. Optimization of diagnosis and prognosis of primary open-angle glaucoma

According to the results of an examination of 184 patients for the first time, an association of single nucleotide polymorphisms of rs35934224 of TXNRD2 gene, rs2745599 and rs984253 of FOXC1 gene with risk of development and progression of the disease was detected for a cohort of Ukrainian patients with primary open-angle glaucoma. It was shown for the first time that the carrier of the minor allele (T) rs35934224 of the TXNRD2 gene was associated with an increased risk of developing POAG and the carrier of allelic variant C is protective in the development of this pathology. At stratification by the degree of perimetric changes, it was first discovered that the association of rs35934224 polymorphism of TXNRD2 gene with POAG increased with increasing severity of the disease. For the first time, it was shown that the carrier of the minor allele (A) of the rs2745599 gene of FOXC1 was associated with an increased risk of developing and homozygous carrier of the major allele (G/G) has a protective effect on the development of the disease. The association of a homozygous carrier of the minor allelic variant (A/A) was revealed only with the risk of developing POAG of grade IV. For the first time, it has been shown that carriers of the minor allelic variant (A) rs984253 of the FOXC1 gene have a 7.04 times increased risk of developing of the disease. Homozygous carrier of the major allele (T/T) has a strong protective effect. The association of alleles and genotypes of SNP rs35934224 of TXNRD2 gene, rs2745599 and rs984253 of FOXC1 gene with POAG was first analyzed. It was shown that in patients with POAG, the combination of the rs35934224 allele of the TXNRD2 gene and rs984253 of the FOXC1 gene had linkage disequilibrium (LD), whereby the chances of developing POAG were increased in carriers of the combination C*A and T*A.