Constitutional risk factors for the development of glaucoma and cataracts in the Europioid population of Russia

Aim. To identify endogenous risk factors for the development of glaucoma and cataracts based on the results of a comparative analysis of the nature of complex genetic trait distribution, including variants of genes for a number of cytokines and receptors for them, metalloproteinases, and their tissue inhibitors included in the genome of patients.

Materials and methods. The study included 501 people of the Caucasian race born and living in the Siberian region of Russia. They were divided into three groups of patients – patients with primary open-angle glaucoma (POAG) (n = 99), patients with senile cataract (n = 100), and the control group (n = 302) without ophthalmic pathology. Genotyping of the analyzed polymorphic loci was carried out by real-time PCR using the SYBRGreen I dye and TaqMan probes and by restriction fragment length polymorphism (RFLP) for different polymorphisms.

Results. The results of the study on the frequency of the analyzed genetic traits among patients with POAG compared to the control group showed the presence of combined genetic traits. The frequency of their detection in POAG was high and characterized by the two-digit value of the odds ratio, high values of specificity (99–100%), and high diagnostic coefficient. A direct comparison of the distribution of two ensembles of genes which protein products are involved in the extracellular matrix remodeling revealed a significant number of genetic traits characteristic of both diseases. This indicates significant differences in the implementation of the genetic predisposition to their development.

Conclusion. The data obtained indicate the possibility of developing reliable laboratory criteria (riskometers) for predicting predisposition to the development of POAG and early diagnosis at the stage of preclinical manifestations.

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