Molecular genetic predictors of polycystic ovary syndrome and its androgenic phenotypes

DOI

https://dx.doi.org/10.18565/aig.2021.4.120-127

Chernukha G.E., Naidukova A.A., Kaprina E.K., Donnikov A.E.
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia, Moscow, Russia

Objective. To study the correlation between polycystic ovary syndrome (PCOS) and polymorphism in genes associated with metabolic dysfunction, impaired androgen biosynthesis and folliculogenesis.
Materials and methods. The study included 163 patients with PCOS (mean age is 25.2 (4.6) years, mean body mass index (BMI) is 23.9 (5.3) kg/m2) and 135 healthy controls who had no reproductive disorders or signs of androgenization (mean age is 49.8 (5.8) years, mean BMI is 27.4 (5.8) kg/m2). The examination of patients with PCOS included pelvic ultrasound, assessment of androgen levels, AMH, LH, FSH, and a two-hour glucose tolerance test with the evaluation of glucose and insulin levels. All patients were genotyped for 45 loci.
Results. PCOS was found to be associated with polymorphism of six genes. The genes Rub5B/SUOX (rs705702), THADA (rs12468394), OCT1 (rs6282031), SLCO1B1 (rs4149056) are supposed to be linked with insulin resistance, impaired glucose tolerance and type 2 diabetes mellitus. Impaired function of the genes DENND1A (rs10818854) and YAP1 (rs1894116) may result in hypothalamic-pituitary dysfunction and hyperandrogenism. The genes Rub5B/SUOX, SLCO1B1, and OCT1 are associated with an increase in glucose and insulin levels, and gene YAP1 is correlated with hyperandrogenism.
Conclusion. These results can serve as the basis for further associative and functional studies on the genetic characteristics of PCOS in the population of the Russian women. The development of an individual genetic risk scale for the diagnosis of PCOS in adolescent girls and women is promising.

polycystic ovary syndrome

gene

polymorphism

phenotype

Full text (in Russian)

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Received 11.12.2020

Accepted 28.01.2021

Galina E. Chernukha, Dr. Med. Sci., Professor, Chief Scientific Researcher of the Department of Gynecological Endocrinology, V.I. Kulakov NMRC for OG&P,
Ministry of Health of Russia. Tel.: +7(916)311-05-21. E-mail: g_chernukha@oparina4.ru. ORCID: 0000-0002-9065-5689. 117997, Russia, Moscow, Ac. Oparina str., 4.
Andrey E. Donnikov, M.D., Ph.D., Head of the Laboratory of Molecular Genetic Methods, V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia.
Tel.: +7(495)438-49-51. E-mail: a_donnikov@oparina4.ru. 117997, Russia, Moscow, Ac. Oparina str., 4.
Alina A. Naydukova, post-graduate student, Department of Gynecological Endocrinology, V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia.
Tel.: +7(916)675-00-97. E-mail: aleeshka@mail.ru. 117997, Russia, Moscow, Ac. Oparina str., 4.
Elena K. Kaprina, postgraduate student, Department of Gynecological Endocrinology, V.I. Kulakov NMRC for OG&P, Ministry of Health of Russia.
Tel.: +7(916)129-41-18. E-mail: kaprina_elena@mail.ru. 117997, Russia, Moscow, Ac. Oparina str., 4.

For citation: Chernukha G.E., Naidukova A.A., Kaprina E.K., Donnikov A.E. Molecular genetic predictors of polycystic ovary syndrome and its androgenic phenotypes.
Akusherstvo i Ginekologiya / Obstetrics and gynecology. 2021; 4: 120-127 (in Russian)
https://dx.doi.org/10.18565/aig.2021.4.120-127

Molecular genetic predictors of polycystic ovary syndrome and its androgenic phenotypes

Chernukha G.E., Naidukova A.A., Kaprina E.K., Donnikov A.E.

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