Disorders of carbohydrate metabolism and candidate genes for the pathophysiology of polycystic ovary syndrome. A literature review
- 作者: Abashova E.I.1, Yarmolinskaya M.I.1, Osinovskaya N.S.1
-
隶属关系:
- The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
- 期: 卷 72, 编号 6 (2023)
- 页面: 115-128
- 栏目: Reviews
- ##submission.dateSubmitted##: 18.10.2023
- ##submission.dateAccepted##: 03.11.2023
- ##submission.datePublished##: 15.12.2023
- URL: https://journals.eco-vector.com/jowd/article/view/611015
- DOI: https://doi.org/10.17816/JOWD611015
- ID: 611015
如何引用文章
详细
Polycystic ovary syndrome is a common heterogeneous disease with metabolic disorders. In the last decade, the study of polycystic ovary syndrome pathogenesis has been associated with the modern development of molecular genetics, transcriptomics, and sequencing methods. Numerous studies have shown that the study of genetic markers and epigenetic changes in metabolic disorders, oxidative stress, chronic inflammation, and mitochondrial dysfunction in polycystic ovary syndrome is an important direction in the pathogenesis and etiology of the disease. The aim of this literature review was to describe candidate genes involved in the pathophysiology of polycystic ovary syndrome and associated with disorders of carbohydrate metabolism according to modern domestic and foreign literature over the past five years. The candidate gene data presented were assessed based on the main aspects of polycystic ovary syndrome pathophysiology, namely, metabolic dysfunction, androgen and gonadotropin imbalance, and inflammation. The insulin genes (variable number of tandem repeats), such as INS-VNTR, IRS-1, IRS-2, and INSR, adiponectin and calpain-10 genes, as well as CY1A1, CYP11A1, PON1, DENND1A and TCF7L2 genes are associated with metabolic disorders in polycystic ovary syndrome. Genetic variants of genes involved in regulating the expression and mechanism of action of insulin, as well as its receptors and substrates (IRS-1, IRS-2, INSR), have been suggested as possible factors involved in the development and severity of the clinical and metabolic manifestations of polycystic ovary syndrome. The presented data on PPARγ gene (and its coactivator PGC-1α) expression levels in women with polycystic ovary syndrome revealed the presence of PPARγ gene polymorphisms associated with insulin resistance. Thus, the data presented in this review from genome-wide association studies (GWAS) and the study of candidate genes showed that numerous pleiotropic effects cause carbohydrate metabolism disorders in polycystic ovary syndrome. The study of genetic markers and epigenetic changes in the development of metabolic disorders, oxidative stress, chronic inflammation, and mitochondrial dysfunction in polycystic ovary syndrome is an important direction in the pathogenesis of the disease.
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作者简介
Elena Abashova
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
编辑信件的主要联系方式.
Email: abashova@yandex.ru
ORCID iD: 0000-0003-2399-3108
SPIN 代码: 2133-0310
MD, Cand. Sci. (Med.)
俄罗斯联邦, Saint PetersburgMaria Yarmolinskaya
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: m.yarmolinskaya@gmail.com
ORCID iD: 0000-0002-6551-4147
SPIN 代码: 3686-3605
MD, Dr. Sci. (Med.), Professor of the Russian Academy of Sciences
俄罗斯联邦, Saint PetersburgNatalia Osinovskaya
The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: natosinovskaya@mail.ru
ORCID iD: 0000-0001-7831-9327
SPIN 代码: 3190-2307
Cand. Sci. (Biol.)
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