The Study Of Molecular Genetic Factors Predisposing To The Development Of Poag In Individuals Of The Uzbek Population

The aim is to study the genetic factors predisposing to the development of POAG in the Uzbek population

We have studied 51 patients with primary open-angle glaucoma and 49 healthy individuals in RSSPMCME, all individuals belonged to the Uzbek population. All sick and healthy persons underwent ophthalmological and molecular genetic methods of research. In the Department of Molecular Genetics, the distribution frequencies of alleles and genotypes of the 1151 A>G and 1021T/C polymorphisms of the MYOC gene were determined.

In patients with a hereditary burden of glaucoma, the onset of the disease was on average 4.3 years earlier and higher IOP values were recorded (by an average of 3.2 ± 0.6 mm Hg) than in patients without a family history glaucoma.

The genetic factor predisposing to the development of POAG is the detection of a heterozygous genotype of the 1151 A>G polymorphism of the MYOC gene, the frequency of which among patients was 4 times higher compared to apparently healthy individuals and high rates of RR and OR, the identified differences were not statistically significant, as well as the heterozygous genotype of the 1021T/C polymorphism of the MYOC gene in the studied groups of patients (χ2 <3.8; p>0.05; RR=2.9; OR=3.1; 95% CI: 0.3077-30.48).

These results indirectly indicate the contribution of the genotype 1151 A>G and 1021T/C of the MYOC gene to the development of POAG.

Homozygous genotypes A/A and C/C of the MYOC gene, the frequency of which in the studied group of patients with POAG was 96.1% and 94.1%, respectively, and in the healthy group - 100 and 98%, respectively, do not have a sufficiently pronounced statistical significant association with the development of increased intraocular pressure.

Taking into account the high correlation of the heterozygous carrier form of the 1151 A>G and 1021T/C mutations of the MYOC gene with the development of POAG, it is possible to assume or predict the development of the disease in this patient in the future, in the presence of any provoking factor.

The obtained data once again testifies to the need for early and careful monitoring of persons with relatives with glaucoma for timely prevention and early diagnosis of the disease