R.I. GABIDULLINA, А.S. ZARIPOVA, L.D. EGAMBERDIEVA

 Kazan State Medical University, Kazan

Contact details:

Gabidullina R.I. — MD, Professor, Head of the Department of Obstetrics and Gynecology named after V.S. Gruzdev

Address: 49 Butlerov St., 420012 Kazan, Russian Federation, tel.: +7 (843) 236-06-23, e-mail: ru.gabidullina@yandex.ru

 The purpose — to determine the frequency of alleles and genotypes of the single nucleotide polymorphism rs2414098 of the CYP19A1 gene among women with ovarian endometriomas; to determine the expression level of this gene and the corresponding protein content in blood.

Material and methods. The study involved 254 women. The single nucleotide polymorphism rs2414098 of the CYP19A1 gene was genotyped using PCR and the relative expression level of the gene in ovarian biopsies obtained during surgery was analyzed. We determined the level of the CYP19A1 protein in blood by enzyme immunoassay.

Results. Among patients with endometrioid ovarian cysts, the homozygous CC genotype was found in 40.8%, the CT genotype in 46.6%, and the homozygous TT genotype in 12.6%. In the control group, these indicators were 50.3, 36.4 and 13.2%, respectively (χ² = 2.79, p = 0.25). The expression level of the CYP19A1 gene was significantly higher in functional ovarian cysts compared with endometrioid cysts. At the same time, the content of the CYP19A1 protein in the blood did not differ between the groups.

Conclusions. The study found no association between the rs2414098 polymorphism of the CYP19A1 gene and the risk of developing ovarian endometriomas in women. It also did not confirm that the CYP19A1 protein concentration in blood serum can serve as a biomarker for ovarian endometriosis.

Key words: CYP19A1 gene, single nucleotide polymorphism, endometrioma, cytochrome P450 19A1 (CYP19A1)

REFERENCES

1. Cong S., Guo Q., Cheng Y. et al. Identification and Analyzation of Differentially Expressed Transcription Factors in Endometriosis. Front. Mol. Biosci, 2021, vol. 7, pp. 614427. DOI: 10.3389/fmolb.2020.614427
2. Wu X., Yu X., Yang L. et al. Global Trends and Emerging Frontiers on Ovarian Endometriosis: A Bibliometric and Visualization Analysis. J. Multidiscip. Health, 2025, vol. 18, pp. 3619–3631. DOI: 10.2147/JMDH.S527221
3. Ferrari F., Epis M., Casarin J. et al. Long-term therapy with dienogest or other oral cyclic estrogen-progestogen can reduce the need for ovarian endometrioma surgery. Women’s health (London, England), 2024, vol. 20. DOI: 10.1177/17455057241252573
4. Ponomareva T.A., Altukhova O.B., Ponomarenko I.V., Churnosov M.I. The role of genetic factors in the formation of endometrioid lesions. Akusherstvo, ginekologiya i reproduktsiya, 2023, vol. 17, no. 4, pp. 443–454 (in Russ.). DOI: 10.17749/2313-7347/ob.gyn.rep.2023.434
5. Lalami I., Abo C., Borghese B. et al. Genomics of endometriosis: from genome Wide Association studies to exome sequencing. Int. J. Mol. Sci, 2021, vol. 22 (14), p. 7297. DOI: 10.3390/ijms22147297
6. 1000 Genomes Project Phase 3, Ensembl 2019, available at: http://www.ensembl.org
7. McKinnon B.D., Kocbek V., Nirgianakis K., Bersinger N.A., Mueller M.D. Kinase signalling pathways in endometriosis: potential targets for non-hormonal therapeutics. Hum. Reprod. Update, 2016, vol. 22 (3), pp. 382–403. DOI: 10.1093/humupd/dmv060
8. Assaf L., Eid A.A., Nassif J. Role of AMPK/mTOR, mitochondria, and ROS in the pathogenesis of endometriosis. Life Sci, 2022, vol. 306, pp. 120805. DOI: 10.1016/j.lfs.2022.120805
9. Tang C., Lin J.H., Lu A.Y.H. C. Metabolism — Based drug — Drug in-teractions: What determines individual variability in cytochrome P450 induction?. Drug Metab. Dispos., 2005, no. 33, pp. 603–613. DOI: 10.1124/dmd.104.003236
10. Wang L., Lu X., Wang D. et al. CYP19 gene variant confers susceptibility to endometriosis-associated infertility in Chinese women. Exp. Mol. Med, 2014, vol. 46 (6), r. 103. DOI: 10.1038/emm.2014.31
11. Méar L., Herr M., Fauconnier A. et al. Polymorphisms and endometriosis: a systematic review and meta-analyses. Hum. Reprod. Update, 2019, vol. 26 (1), rr. 73–102. DOI: 10.1093/humupd/dmz034
12. Gabidullina R.I., Smirnova G.A., Nukhbala F.R. et al. Association of single nucleotide polymorphism of the CYP19A1 rs2414098 gene with the risk of developing endometrioid adenocarcinoma. Prakticheskaya meditsina, 2019, no. 17, pp. 68–71 (in Russ.). DOI: 10.32000/2072-1757-2019-4-68-71
13. Shved N.Yu., Malysheva O.V., Osinovskaya N.S. et al. Analysis of the expression of the aromatase CYP19A1, progesterone PGR and estrogen receptors ESR1 genes in tissue biopsies of endometrioid heterotopias and endometrium by the RT-PCR method. Zhurnal akusherstva i zhenskikh bolezney, 2019, vol. 68, no. 2, pp. 79–86 (in Russ.). DOI: 10.17816/JOWD68279-86
14. Bulun S.E., Yildiz S., Adli M., Chakravarti D., Parker J.B., Milad M. et al. Endometriosis and adenomyosis: shared pathophysiology. Fertil. Steril, 2023, vol. 119 (5), pp. 746–750. DOI: 10.1016/j.fertnstert.2023.03.006