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Features of steroidogenesis gene variants in female patients with a burdened obstetric and gynecological history
https://doi.org/10.25557/2073-7998.2025.08.85-88
Abstract
In women with a complex obstetric and gynecological history, miscarriage is a predominant concern. Steroidogenesis plays a crucial role in female reproductive health. Different genes involved in this process, the polymorphism of which may be associated with the risk of pregnancy loss. We analyzed CYP21A2, HSD3B2, CYP17A1, STAR, CYP11A1, POR genes using NGS, PCR-RFLP and MLPA methods in 30 women with a history of miscarriage and 46 individuals in the control group. A total of 142 nucleotide sequence variants were identified in both coding and non-coding regions of these genes, with different clinical significance. Pathogenic variants in the CYP21A2 gene were detected in 30 % of women with miscarriage compared to 6.5 % in the control group. One missense variant (rs17853284) with a potential pathogenic effect was identified in the POR gene. These findings suggest that heterozygous carriage in steroidogenesis-related genes, particularly CYP21A2, requares further investigation as potential predictors of possible obstetric complications.
Supporting agencies: The study was carried out within the framework of the topic of the Federal Research No. 1024032800068-4-3.2.2 «Development of treatment strategies aimed at active longevity of women»
About the Authors
N. S. Osinovskaya
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Russian Federation
Russian Federation
199034; 3, Mendeleevskaya line; Saint Petersburg
Yu. A. Nasykhova
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Russian Federation
Russian Federation
199034; 3, Mendeleevskaya line; Saint Petersburg
T. E. Lazareva
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Russian Federation
Russian Federation
199034; 3, Mendeleevskaya line; Saint Petersburg
I. Yu. Sultanov
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Russian Federation
Russian Federation
199034; 3, Mendeleevskaya line; Saint Petersburg
O. A. Tarasenko
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Russian Federation
Russian Federation
199034; 3, Mendeleevskaya line; Saint Petersburg
O. B. Glavnova
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Russian Federation
Russian Federation
199034; 3, Mendeleevskaya line; Saint Petersburg
M. I. Yarmolinskaya
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Russian Federation
Russian Federation
199034; 3, Mendeleevskaya line; Saint Petersburg
A. S. Glotov
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Russian Federation
Russian Federation
199034; 3, Mendeleevskaya line; Saint Petersburg
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Review
For citations:
Osinovskaya N.S., Nasykhova Yu.A., Lazareva T.E., Sultanov I.Yu., Tarasenko O.A., Glavnova O.B., Yarmolinskaya M.I., Glotov A.S. Features of steroidogenesis gene variants in female patients with a burdened obstetric and gynecological history. Medical Genetics. 2025;24(8):85-88. (In Russ.) https://doi.org/10.25557/2073-7998.2025.08.85-88
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