Molecular genetic predictors of polycystic ovary syndrome and its androgenic phenotypes

2021 ◽  
Vol 4_2021 ◽  
pp. 120-127
Author(s):  
Chernukha G.E. Chernukha ◽  
Naidukova A.A. Naidukova ◽  
Kaprina E.K. Kaprina ◽  
Donnikov A.E. Donnikov ◽  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Molecular Genetic ◽  
Ovary Syndrome ◽  
Genetic Predictors

scholarly journals The Molecular-Genetic Basis of Functional Hyperandrogenism and the Polycystic Ovary Syndrome

2005 ◽  
Vol 26 (2) ◽  
pp. 251-282 ◽  
Author(s):  
Héctor F. Escobar-Morreale ◽  
Manuel Luque-Ramírez ◽  
José L. San Millán
Keyword(s):  
Environmental Factors ◽  
Polycystic Ovary Syndrome ◽  
Diagnostic Criteria ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Molecular Genetic ◽  
Ovary Syndrome ◽  
The Metabolic Syndrome ◽  
Molecular Genetic Basis ◽  
Functional Hyperandrogenism

The genetic mechanisms underlying functional hyperandrogenism and the polycystic ovary syndrome (PCOS) remain largely unknown. Given the large number of genetic variants found in association with these disorders, the emerging picture is that of a complex multigenic trait in which environmental influences play an important role in the expression of the hyperandrogenic phenotype. Among others, genomic variants in genes related to the regulation of androgen biosynthesis and function, insulin resistance, and the metabolic syndrome, and proinflammatory genotypes may be involved in the genetic predisposition to functional hyperandrogenism and PCOS. The elucidation of the molecular genetic basis of these disorders has been burdened by the heterogeneity in the diagnostic criteria used to define PCOS, the limited sample size of the studies conducted to date, and the lack of precision in the identification of ethnic and environmental factors that trigger the development of hyperandrogenic disorders. Progress in this area requires adequately sized multicenter collaborative studies after standardization of the diagnostic criteria used to classify hyperandrogenic patients, in whom modifying environmental factors such as ethnicity, diet, and lifestyle are identified with precision. In addition to classic molecular genetic techniques such as linkage analysis in the form of a whole-genome scan and large case-control studies, promising genomic and proteomic approaches will be paramount to our understanding of the pathogenesis of functional hyperandrogenism and PCOS, allowing a more precise prevention, diagnosis, and treatment of these prevalent disorders.

scholarly journals Polymorphisms of cytochrome genes in women with polycystic ovary syndrome

2019 ◽  
Vol 4 (3) ◽  
pp. 8-14
Author(s):  
A. Yu. Beglova ◽  
S. I. Yelgina ◽  
N. V. Artymuk ◽  
L. A. Gordeeva
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Promoter Region ◽  
Polycystic Ovary ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Reproductive Age ◽  
Genotype Distribution ◽  
Ovary Syndrome ◽  
Healthy Women ◽  
Meta Analyses

Aim. To study the polymorphisms of CYP11A1, CYP17A1, and CYP19A1 genes in women with polycystic ovary syndrome (PCOS) of reproductive age in comparison with women without PCOS.Materials and Methods. We consecutively recruited 94 women with polycystic ovary syndrome of reproductive age and 94 age-matched healthy women. All patients were subjected to molecular genetic analysis of pentanucleotide ((tttta)n) polymorphism at -528 position within the promoter region of the CYP11A1 gene, rs743572 polymorphism within the CYP17A1 gene, and rs2470152 polymorphism within the CYP19A1 gene. We further compared the frequencies of respective genotypes and alleles between the groups.Results. Genotype distribution of the indicated polymorphisms did not differ significantly between the groups. However, for CYP11A1 (tttta)n polymorphism, a trend to the accumulation of the alleles with a large number of (tttta)n-repeats was observed in women with polycystic ovary syndrome as compared to healthy women. The most common were VNTR genotypes with 6/6, 6/8 and 8/8 pentanucleotide repeats.Conclusion. The studied polymorphisms of cytochrome genes did not affect the risk of PCOS in the examined group of women. Our study may be useful for the further meta-analyses related to the genetic predisposition to PCOS. 

scholarly journals Polycystic ovary syndrome – 80 years of research and new directions in the study (literature review)

2016 ◽  
Vol 1 (5) ◽  
pp. 181-186 ◽  
Author(s):  
Дамдинова ◽  
Lyudmila Damdinova ◽  
Лещенко ◽  
Olga Leshchenko
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Depressive Disorders ◽  
Peptide Yy ◽  
Polycystic Ovary ◽  
Bacterial Flora ◽  
Molecular Genetic ◽  
Scientific Work ◽  
Current Data ◽  
Hormonal Contraceptives ◽  
Ovary Syndrome

The article presents the current data of history of polycystic ovary syndrome (PCOS) study. It contains studies of genetic susceptibility of PCOS, PCOS symptoms and connection with development of anxiety and depressive disorders. The article covers ethnic differences in the phenotypic manifestations of PCOS. The papers describes the study of endocrine causes of infertility in Russian and Buryat women. Several theories of PCOS, including the theory of PCOS connection with intestinal bacterial flora disorders (“dysbiotic intestinal microbiota”) are being discussed. The article also provides an overview of various scientific research in this area and the data of the relationship of PCOS and the risk of cardiometa-bolic disorders, insulin resistance, metabolic syndrome, obesity and sleep apnea. It highlights modern aspects in the study of PCOS etiology – studies of adipose tissue as an endocrine organ. The article reflects study of PCOS relationship with the level of the gastrointestinal tract hormones: leptin, insulin, ghrelin, cholecystokinin, peptide YY. The effect of short-term low-dose hormonal contraceptives on appetite levels in PCOS is covered. The scientific articles on the severity of hypertension in menopausal women with PCOS history and the presence of overweight are reviewed. The scientific work determines molecular genetic markers of PCOS in the aspect of the influence of environmental factors on the expression of genes.

The role of vitamin D in metabolic and reproductive disturbances of polycystic ovary syndrome: A narrative mini-review

2020 ◽  
pp. 1-8
Author(s):  
Daniela Menichini ◽  
Gianpiero Forte ◽  
Beatrice Orrù ◽  
Giuseppe Gullo ◽  
Vittorio Unfer ◽  
...  
Keyword(s):  
Vitamin D ◽  
Polycystic Ovary Syndrome ◽  
Embryo Quality ◽  
Polycystic Ovary ◽  
Vitamin D Supplementation ◽  
Endometrial Receptivity ◽  
Metabolic Disturbances ◽  
Ovary Syndrome ◽  
Beneficial Role

Abstract. Vitamin D is a secosteroid hormone that plays a pivotal role in several metabolic and reproductive pathways in humans. Increasing evidence supports the role of vitamin D deficiency in metabolic disturbances and infertility in women with polycystic ovary syndrome (PCOS). Indeed, supplementation with vitamin D seems to have a beneficial role on insulin resistance and endometrial receptivity. On the other hand, exceedingly high levels of vitamin D appear to play a detrimental role on oocytes development and embryo quality. In the current review, we summarize the available evidence about the topic, aiming to suggest the best supplementation strategy in women with PCOS or, more generally, in those with metabolic disturbances and infertility. Based on the retrieved data, vitamin D seems to have a beneficial role on IR, insulin sensitivity and endometrial receptivity, but high levels and incorrect timing of administration seem to have a detrimental role on oocytes development and embryo quality. Therefore, we encourage a low dose supplementation (400–800 IU/day) particularly in vitamin D deficient women that present metabolic disturbances like PCOS. As far as the reproductive health, we advise vitamin D supplementation in selected populations, only during specific moments of the ovarian cycle, to support the luteal phase. However, ambiguities about dosage and timing of the supplementation still emerge from the clinical studies published to date and further studies are required.

Metformin Treatment Ameliorates Liver Injury Indicating Fatty Liver Polycystic Ovary Syndrome

2015 ◽  
Vol 53 (01) ◽  
Author(s):  
S Tan ◽  
N Vollmar ◽  
S Benson ◽  
LP Bechmann ◽  
G Gerken ◽  
...  
Keyword(s):  
Liver Injury ◽  
Polycystic Ovary Syndrome ◽  
Fatty Liver ◽  
Polycystic Ovary ◽  
Metformin Treatment ◽  
Ovary Syndrome
Sign in / Sign up

Export Citation Format

Share Document