THE ROLE OF DETERMINANT GENES OF STEROID HORMONES DYSFUNCTION REGULATORS (CYP17A1-RS743572, CYP19A1-RS247015) IN THE DEVELOPMENT OF PCOS IN WOMEN WITH INFERTILITY

Abstract

Summary. Purpose: to develop prognostic criteria for the outcomes of ART programs in women with infertility in PCOS based on molecular genetic predictors of folliculogenesis disorders. Material and research methods. To solve the tasks set in the work, 125 women were examined: group first - 45 women with primary PCOS and infertility; group second - 46 women with infertility and PCOS in preparation for ART; group third 26 conditionally healthy women. Based on the foregoing, we presented the data of our own studies on the assessment of the state, the genes of steroid hormones (CYP17A1-rs743572, CYP19A1-rs247015) based on the analysis of laboratory data.

Results and its discussion. Regarding the influence of the polymorphism of the CY19A1 rs2470152 gene on the development of PCOS, mutant alleles were found to be significantly higher in patients than in the control group. When we divided the main group into MC(+) and MC(-) in terms of CYP19A1 and compared with the control group, we found that the homozygous mutant genotype was found to be greater in the MC(+) and MC(-) group compared to the control group. With this, we can conclude that the homozygous mutational form of the CYP19A1 gene plays a convincing inducible role in PCOS and our result was significant (chi2 - 5.74; p<0.02 in the main group; chi2=5.2; p=0.02 in patients with metabolic syndrome and chi2=3.9; p<0.05 in patients without metabolic syndrome). However, the study did not reveal an induced effect on the heterozygous genotype in the development of PCOS (chi2<3.85; p>0.05). At the same time, the wild-type homozygous variant played a protective role in terms of the appearance of PCOS in the main group, as well as in the MC (+) and MC (-) groups (OR≥0.5). When it comes to the Hardy Weinberg equation, we found no significant difference between the expected and observed results in the main group. Estimates of polymorphism prediction efficiency, as already mentioned, showed only 0.6, which means that the prediction efficiency was not reliable in terms of mutant allele and genotype.

In conclusion, from the study of CY17A1 polymorphism in patients with PCOS, it can be said that the GG mutant genotype was statistically significantly more common in patients compared to the control group. When dividing PCOS patients, they were divided into groups and compared with the control group, MS+ PCOS patients had a lower level of the mutant form (GG) genotype compared to the control group, but in MS-PCOS patients compared to the control group, the mutant gene was determined more.