MOLECULAR-GENETIC SIGNIFICANCE OF ESR1 AND MMP-9 GENE POLYMORPHISMS IN EARLY DIAGNOSIS AND PROGNOSIS OF ENDOMETRIOSIS

The article presents the results of a molecular-genetic study involving 175 women of reproductive age. Participants were assigned to three groups: the main group consisted of 90 patients (47 women with endometriosis — subgroup I; 43 patients with combined endometriosis and uterine fibroids — subgroup II); the control group included 85 somatically healthy women. Allele and genotype frequencies of the ESR1 (G-351A, rs9340799) and MMP-9 (Gln279Arg, rs17576) polymorphisms were assessed, along with their diagnostic and prognostic value. Statistical analysis was performed using the χ² test, calculation of relative risk (RR), odds ratio (OR), and ROC-analysis. The mutant A/A genotype of ESR1 and the mutant Arg/Arg genotype of MMP-9 were detected in the main group significantly more frequently than in controls; a particularly pronounced association was observed in subgroup II, where the OR values reached 8.62 and 3.31, respectively. The obtained data allow considering the studied polymorphisms as promising molecular markers for early prognosis of endometriosis in the Uzbek population.

Ҳали таржима қилинмаган