ANALYSIS OF THE ASSOCIATIONS OF GENE POLYMORPHISMS WITH POLYCYSTIC OVARY SYNDROME AND ENDOCRINE AND METABOLIC DISTURBANCES
- Authors: SUKHIKH G.T1, BIRYUKOVA A.M1, NAZARENKO T.A1, ZAKHARZHEVSKAYA N.B2, DURINYAN E.R2, GENEROZOV E.V2, GOVORUN V.M2
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Affiliations:
- Academician V. I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia
- Research Institute of Physicochemical Medicine, Federal Biomedical Agency
- Issue: No 5 (2011)
- Pages: 49-53
- Section: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/246525
- ID: 246525
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Abstract
Ministry of Health and Social Development of Russia, Moscow 2Research Institute of Physicochemical Medicine, Federal Biomedical Agency, Moscow Objective. To search for molecular genetic factors involved in the development of endocrine and metabolic disturbances in polycystic ovary syndrome (PCOS), which may contribute to the clarification of the pathogenetic mechanisms of development of the disease. Subjects and methods. A study group included 98 women with verified PCOS; a comparison group (without PCOS) comprised 62 patients with tuboperitoneal and male factors of infertility. The investigators employed molecular genetic studies, such as polymerase chain reaction, minisequencing, agarose gel electrophoresis, and mass spectrometry. SGTA, FST, IRS1, IRS2, PPARg, HSD17B5, HSD17B6, FTO, FEM1B, and FEM1A gene polymorphisms were analyzed. Results. The carriage of either the minor allele T of the IRS2 and IRS1 genes in the heterozygous state or the homozygous genotype TT involves a three- to ten-fold risk for PCOS. That of the minor allele T of the IRS2 gene determines a double risk for higher HOMA scores and a trend risk for glucose intolerance. The homozygous genotype CC of the IRS1 gene produces a protective effect against the risk for glucose intolerance in the presence of PCOS. The carriage of the homozygous genotype TT of the IRS1 gene is associated with a five-fold risk for increased HOMA scores. In minor allele A carriage, HSD17B6 gene polymorphism was ascertained to involve a three-fold risk for higher HOMA scores and the carriage of the homozygous genotype GG determined its protective effect against the same sign. HSD17B5 gene polymorphism was responsible for a two-fold risk for increased HOMA scores with minor allele A carriage. Investigation of the other (FST, FTO, FEM1A, FEM1B, PPARg, and SGTA) gene polymorphisms in question revealed no signif icant associations either in the PCOS group or the comparison one. Conclusion. The molecular genetic study has revealed associations of the gene polymorphisms with the risk for just PCOS and its metabolic symptoms.
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About the authors
G. T SUKHIKH
Academician V. I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia
Email: g_sukhikh@oparina.ru
A. M BIRYUKOVA
Academician V. I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia
T. A NAZARENKO
Academician V. I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia
N. B ZAKHARZHEVSKAYA
Research Institute of Physicochemical Medicine, Federal Biomedical Agency
E. R DURINYAN
Research Institute of Physicochemical Medicine, Federal Biomedical Agency
E. V GENEROZOV
Research Institute of Physicochemical Medicine, Federal Biomedical Agency
V. M GOVORUN
Research Institute of Physicochemical Medicine, Federal Biomedical Agency
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