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

S Djumayeva, F Akhmedov, N Muminova
In: Scientific and Innovative Therapy · 2026 · vol. 5(2) , pp. 1619–1638 · doi:10.64582/ivit.uz.778 · W7160043858
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The paper reports a molecular-genetic study of 175 reproductive-age women in Uzbekistan, comparing allele and genotype frequencies of ESR1 (G-351A, rs9340799) and MMP-9 (Gln279Arg, rs17576) polymorphisms between 90 women with endometriosis (including a subgroup with endometriosis plus uterine fibroids) and 85 somatically healthy controls. Using χ² testing, relative risk/odds ratio calculations, and ROC-analysis, the authors found the ESR1 mutant A/A genotype and the MMP-9 mutant Arg/Arg genotype occurred significantly more often in the main patient group than in controls, with the strongest associations in the subgroup combining endometriosis and uterine fibroids (reported OR up to 8.62 for ESR1 and 3.31 for MMP-9). The main limitation explicitly implied by the design is that results are based on this single-population sample without mention of external validation. This paper is centrally about endometriosis — it evaluates ESR1 and MMP-9 polymorphisms as molecular markers for early prognosis and assessment in endometriosis, including comorbidity with uterine fibroids.

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Abstract

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.
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MOLECULAR-GENETIC SIGNIFICANCE OF ESR1 AND MMP-9 GENE POLYMORPHISMS IN EARLY DIAGNOSIS AND PROGNOSIS OF ENDOMETRIOSIS Джумаева С.Т Ахмедов Ф.К Муминова Н.Х Аннотация: 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. Ключевые слова: endometriosis, uterine fibroids, ESR1 gene, MMP-9 gene, gene polymorphism, rs9340799, rs17576, molecular-genetic marker, ROC-analysis, early diagnosis, reproductive health, Uzbek population. Литература: - Giacomini E., Minetto S., Li Piani L., Pagliardini L., Somigliana E., Viganò P. Genetics and inflammation in endometriosis: improving knowledge for development of new pharmacological strategies. International Journal of Molecular Sciences, 2021, Vol. 22, No. 16. — P. 9033. - Montgomery G.W., Mortlock S., Giudice L.C. Should genetics now be considered the pre-eminent etiologic factor in endometriosis? Journal of Minimally Invasive Gynecology, 2020, Vol. 27, No. 2. — P. 280–286. - Bo C., Wang Y. Endometriosis and ovarian cancer: insights into their relationship and treatment options. European Journal of Medical Research, 2024, Vol. 29, No. 1. — P. 227. - Huang Q., Song Y., Lei X. et al. The role of matrix metalloproteinases in endometriosis: a systematic review. Frontiers in Endocrinology, 2024, Vol. 15. — P. 1–14. - Rahmioglu N., Mortlock S., Ghiasi M. et al. The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nature Genetics, 2023, Vol. 55, No. 3. — P. 423–436. - Painter J.N., Anderson C.A., Nyholt D.R. et al. Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nature Genetics, 2011, Vol. 43, No. 1. — P. 51–54. - Hansen K.A., Eyster K.M. Genetics and genomics of endometriosis. Clinical Obstetrics and Gynecology, 2010, Vol. 53, No. 2. — P. 403–412. - Guo S.W., Wang Y. Epigenetic aberrations in endometriosis: a state-of-the-art review. Reproductive BioMedicine Online, 2023, Vol. 47, No. 2. — P. 103–120. - Zondervan K.T., Becker C.M., Koga K., Missmer S.A., Taylor R.N., Viganò P. Endometriosis. Nature Reviews Disease Primers, 2018, Vol. 4, No. 1. — P. 9. - Li Y., Wang Y., Li D. Association of ESR1 gene polymorphisms with endometriosis risk: a meta-analysis. Medicine (Baltimore), 2022, Vol. 101, No. 18. — P. e29212. - Zokirov V. Z. Comparative analysis of the results of laboratory-biochemical analysis in middle-aged and elderly patients with non-alcoholic fatty liver disease after covid-19 //Art of Medicine. International Medical Scientific Journal. – 2022. – Т. 2. – №. 1. - Zokirov V. Z. COVID 19 o’tkazgan va o’tkazmagan jigarning noalkagol yog’xastaligi bilan og’rigan bemorlar klinikasi va labarator tahlillarining solishtirma tahlili //Scientific progress. – 2022. – Т. 3. – №. 1. – С. 670-675. - Зокиров В.З. жигар ноалкогол ёғ хасталиги бор ўрта ва қари ёшдаги беморларда лаборатор-биокимёвий таҳлиллар covid-19 билан касаллангандан кейинги ўзгаришининг қиёсий тавсифи //журнал биомедицины и практики. – 2022. – Т. 7. – №. 3. - Джумаева С.Т., Ахмедов Ф.К. Современные подходы к ранней диагностике эндометриоза. Журнал репродуктивного здоровья и уронефрологических исследований, 2024, № 3. — С. 45–52. - Муминова Н.Х. Роль молекулярно-генетических маркёров в прогнозировании гинекологических заболеваний. Тиббиёт ахбороти, 2023, № 4. — С. 77–83.

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