Exploration of the association between gonadotropin genes and their receptor gene variants and the development of polycystic ovary syndrome
Ustenko K.A., Derevyanchuk E.G., Aleksandrova A.A.
Objective: To evaluate the association between gonadotropin genes and their receptor gene variants with the development of polycystic ovary syndrome (PCOS).
Materials and methods: The study included 112 women. The main group comprised 57 women with PCOS, and the control group comprised 55 women. Exploration of gene variants NM_000894.3(LHB): c. 364G>A (p. Gly122Ser), rs5030774; NM_001382289. 1(FSHB):c.236_237del(p.Val79fs), rs5030646 and NC_000011.10:g.30204981G>A, rs11031006; NM_000233.4 (LHCGR):c.537-235G>A, rs4953616; NM_000145. 4(FSHR):c.919G>A(p.Ala307Thr), rs6165 was performed using allele-specific real-time PCR method followed by statistical data processing.
Results: Our study found no association between PCOS and the variant rs5030774 in the LHB gene and the variant rs5030646 in the FSHB gene. Statistically significant differences were found between the groups under study in distribution of alleles and genotypes across the variant rs11031006 in the FSHB gene, rs4953616 in the LHCGR gene, and rs6165 in the FSHR gene. Allele frequencies of the FSHB A rs11031006 and the FSHR T rs6165 were higher in the control group (59/110 (53.6%) at p=0.008 (OR=0.485 95%, CI 0.284–0.829) and 86/110 (78.2%) at p=0.014 (OR=0.478, 95%, CI 0.265–0.864), respectively, while the prevalence of the allele T rs4953616 of the LHCGR gene was higher in the group of patients with PCOS compared with the control group (87/114 (76,3%) at p=0.002 (OR=2.404, 95% CI 1.354–4.267)).
Conclusion: Exploration of polymorphic loci of gonadotropin genes and their receptor gene variants showed statistically significant association between PCOS and rs11031006 in the FSHB gene, rs4953616 in the LHCGR gene, and rs6165 in the FSHR gene.
Authors' contributions: Ustenko K.A. – collection and processing of primary material, genotyping; Derevyanchuk E.G. – analysis of literature data, statistical analysis of the obtained data, manuscript writing; Alexandrova A.A. – development of the concept and design of the study, manuscript editing.
Conflicts of interest: The authors confirm that they have no conflicts of interest to declare.
Funding: The study was supported by the Russian Science Foundation, project No. 23-15-00464.
Ethical Approval: The study was approved by the Ethics Committee of the Academy of Biology and Biotechnology named after D.I. Ivanovskiy of the Southern Federal University (Protocol No. 12 of December 24, 2019).
Patient Consent for Publication: All patients provided informed consent for the publication of their data (and associated images)
Authors' Data Sharing Statement: The data supporting the findings of this study are available on request from the corresponding author after approval from the principal investigator.
For citation: Ustenko K.A., Derevyanchuk E.G., Aleksandrova A.A. Exploration of the association between
gonadotropin genes and their receptor gene variants and the development of polycystic ovary syndrome.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2025; (8): 143-149 (in Russian)
https://dx.doi.org/10.18565/aig.2025.123
Keywords
gonadotropins
gonadotropin receptors
polycystic ovary syndrome
polymorphic loci of genes
LHB
FSHB
LHCGR
FSHR
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Received 10.05.2025
Accepted 30.07.2025
About the Authors
Ksenia A. Ustenko, student, Rostov State Medical University, Ministry of Health of Russia, 344022, Russia, Rostov-on-Don, per. Nakhichevansky, 29, +7(928) 770-33-34, ustenko.ksusha@gmail.com, https://orcid.org/0009-0003-3992-1923Ekaterina G. Derevyanchuk, PhD, Associate Professor, Southern Federal University, 344090, Russia, Rostov-on-Don, Stachki Ave., 194 build. 1, +7(928)132-29-88, biolab2008@yandex.ru, https://orcid.org/0000-0002-6231-3454
Anzhela A. Aleksandrova, PhD, Associate Professor, Southern Federal University, 344090, Russia, Rostov-on-Don, Stachki Ave., 194 build. 1, +7(928)190-58-30, aalexsandrova@mail.ru, https://orcid.org/0000-0002-1948-4995
Corresponding author: Ekaterina G. Derevyanchuk, biolab2008@yandex.ru
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