Bуts Y. Genetic aspects of cataract development: influence of crystallin and proteasome gene polymorphsims.

Thesis has dedicated the problem of enhancing diagnostic's efficiency, appropriate using genetic methods as a prognostics criteria for appearance and development of age-related cataract in Ukrainian population. Conclusion, that Ukrainian population has G/A genotype as one of the risk factors for appearance age-related cataract, is made by according to acquired data about the distribution of allelic variants of the gene CRYGB (G-47- A). Polymorphism of the CRYGB gene (G-47- A) has been the more significant factor for appearance age-related cataract in men compared to women by analysis gender features of allele frequency distribution. Functional meaning of G-47- A polymorphism-expression mRNA CRYGB in the heterozygote is 3.9 times lower than that of the homozygote. Distribution of allelic variants of the gene PSMA6 and LMP2 haven't different in the group of age-related cataract versus to control group. The association between the degrees of maturity of cataracts on the LOCS III scale and the CRYGB and PSMA6 gene polymorphisms (opalescence and color of the nucleus, the degree of cortical and subcapsular opacities) has been shown by regression analysis. The mathematical model for prediction probable risk of developing an age-related cataract, that based on the established data of genetic research, is developed. It makes it possible to isolate the risk groups of this disease.