Role of Single Nucleotide Variants in FSHR, GNRHR, ESR2 and LHCGR Genes in Adolescents with Polycystic Ovary Syndrome

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dc.contributor.authorLidaka, Lasma
dc.contributor.authorBeķere, Laine
dc.contributor.authorRota, Adele
dc.contributor.authorIsakova, Jekaterina
dc.contributor.authorLazdāne, Gunta
dc.contributor.authorĶīvīte-Urtāne, Anda
dc.contributor.authorDzīvīte-Krišāne, Iveta
dc.contributor.authorKempa, Inga
dc.contributor.authorDobele, Zane
dc.contributor.authorGailīte, Linda
dc.contributor.institutionDepartment of Obstetrics and Gynaecology
dc.contributor.institutionScientific Laboratory of Molecular Genetics
dc.contributor.institutionInstitute of Public Health
dc.date.accessioned2021-12-20T14:30:01Z
dc.date.available2021-12-20T14:30:01Z
dc.date.issued2021-12-11
dc.descriptionFunding Information: Funding: The study was financially supported by a Riga Stradins University internal research grant. Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
dc.description.abstractBackground: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women, affecting up to 16.6% of reproductive-age women. PCOS symptoms in adolescents comprise oligomenorrhoea/amenorrhoea and biochemical and/or clinical hyperandrogenism. Long-term health risks of PCOS patients include infertility, metabolic syndrome, type 2 diabetes and cardiovascular disease. Genetic factors have been proven to play a role in development of the syndrome and its symptoms. Objective: To investigate single nucleotide variants (SNVs) in the GNRHR, ESR2, LHCGR and FSHR genes in adolescent patients with PCOS and their association with PCOS symptoms. Methods: We conducted a cross-sectional study comprising of 152 adolescents: 63 patients with PCOS, 22 patients at risk of developing PCOS and 67 healthy controls. Participants were recruited from out-patients attending a gynaecologist at the Children’s Clinical University Hospital, Riga, Latvia, between January 2017 and December 2020. Genomic DNA was extracted from whole blood, and SNVs in the GNRHR, ESR2, LHCGR and FSHR genes were genotyped. The distributions of SNV genotypes were compared among the three groups and genotype-phenotype associations within the PCOS group were evaluated. Results: No statistically significant differences were found in the distributions of genotypes for GNRHR (rs104893837), ESR2 (rs4986938), LHCGR (rs2293275) and FSHR (rs6166, rs6165, rs2349415) among PCOS patients, risk patients and healthy controls. Within the PCOS group, ESR2 rs4986938 minor allele homozygous patients had a significantly higher level of total testosterone than major allele homozygous patients and heterozygous patients. A significantly higher total testosterone level was also observed in PCOS patients carrying the LHCGR rs2293275 minor allele compared with major allele homozygous patients. Conclusions: The SNVs ESR2 rs4986938 and LHCGR rs2293275 play a role in the phenotypic characteristics of PCOS. To fully uncover their influence on the development of PCOS and its symptoms, further studies of larger cohorts and a follow up of this study sample through to adulthood are required. Furthermore, studies of adolescent PCOS patients conducted prior to the latest European Society of Human Reproduction and Embryology (ESHRE) criteria (2018) should be re-evaluated as the study groups might include risk patients according to these updated criteria, thereby potentially significantly impacting the published results.en
dc.description.statusPeer reviewed
dc.format.extent11
dc.format.extent278417
dc.identifier.citationLidaka, L, Beķere, L, Rota, A, Isakova, J, Lazdāne, G, Ķīvīte-Urtāne, A, Dzīvīte-Krišāne, I, Kempa, I, Dobele, Z & Gailīte, L 2021, 'Role of Single Nucleotide Variants in FSHR, GNRHR, ESR2 and LHCGR Genes in Adolescents with Polycystic Ovary Syndrome', Diagnostics, vol. 11, no. 12, 2327. https://doi.org/10.3390/diagnostics11122327, https://doi.org/10.3390/diagnostics11122327
dc.identifier.doi10.3390/diagnostics11122327
dc.identifier.issn2075-4418
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/7068
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85121589978&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofDiagnostics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectadolescents
dc.subjectgenetics
dc.subjectGNRHR
dc.subjectESR2
dc.subjectLHCGR
dc.subjectFSHR
dc.subjectpolycystic ovary syndrome
dc.subject3.2 Clinical medicine
dc.subject3.1 Basic medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectClinical Biochemistry
dc.subjectSDG 3 - Good Health and Well-being
dc.titleRole of Single Nucleotide Variants in FSHR, GNRHR, ESR2 and LHCGR Genes in Adolescents with Polycystic Ovary Syndromeen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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