Biomedicine and Chemical Sciences
2022, Volume 1, Issue 4 : 259-263
Research Article
Genetic Polymorphisms in Polycystic Ovarian Syndrome
Received
June 28, 2022
Revised
July 26, 2022
Accepted
July 26, 2022
Published
Oct. 1, 2022
Abstract

Polycystic ovarian syndrome can be defined as an endocrine disorder that most affects the reproductive system of women of childbearing age; its causes are not exactly known. However, the majority of the experts agree that it is a multifactorial entity with multiple factors. Genetics is becoming increasingly important. In recent years, several genes that are involved in the pathogenic processes of this syndrome have been identified. Within these, the most important ones are the ones that encode steroidogenesis enzymes and insulin receptors, as well as other hormones that are associated with the actions of insulin and gonadotropins and their receptors. The results obtained included 1) women with PCOS had significantly lower levels of adiponectin compared to controls. Adiponectin levels were significantly lower in both lean and obese women with PCOS compared to the control group. 2) PCOS women had significantly higher levels of LH, FSH, LH/FSH ratio, and total testosterone compared to controls. 3) Both lean and obese PCOS women had significantly higher levels of LH, LH/FSH ratio, and total testosterone compared to the control group, however, FSH levels were significantly increased only in obese PCOS women compared to controls. 4) PCOS women had significantly higher levels of total cholesterol, triglycerides, LDL cholesterol, VLDL cholesterol, and lower levels of HDL-cholesterol compared to controls. 5) Both lean and obese PCOS women had significantly higher levels of total cholesterol, triglycerides, LDL cholesterol, and VLDL cholesterol compared to controls. Only obese PCOS women had significantly lower levels of HDL-cholesterol compared to the controls. 6) The genotype analysis of FSHR gene polymorphism showed that the heterozygote Ala/Thr genotype was significantly more frequent in PCOS patients than in controls (64.1% versus 40%).

Keywords
REFERENCES
  1. Allahbadia, G. N., & Merchant, R. (2011). Polycystic ovary syndrome and impact on health. Middle East Fertility Society Journal, 16(1), 19-37. https://doi.org/10.1016/j.mefs.2010.10.002
  2. Azziz, R., Carmina, E., Dewailly, D., Diamanti-Kandarakis, E., Escobar-Morreale, H. F., Futterweit, W., ... & Witchel, S. F. (2006). Criteria for defining polycystic ovary syndrome as a predominantly hyperandrogenic syndrome: an androgen excess society guideline. The Journal of Clinical Endocrinology & Metabolism, 91(11), 4237-4245. https://doi.org/10.1210/jc.2006-0178
  3. Azziz, R., Woods, K. S., Reyna, R., Key, T. J., Knochenhauer, E. S., & Yildiz, B. O. (2004). The prevalence and features of the polycystic ovary syndrome in an unselected population. The Journal of Clinical Endocrinology & Metabolism, 89(6), 2745-2749. https://doi.org/10.1210/jc.2003-032046
  4. Baba, T., Endo, T., Sata, F., Nagasawa, K., Honnma, H., Kitajima, Y., ... & Saito, T. (2009). The contributions of resistin and adiponectin gene single nucleotide polymorphisms to the genetic risk for polycystic ovary syndrome in a Japanese population. Gynecological Endocrinology, 25(8), 498-503. https://doi.org/10.1080/09513590902972042
  5. Baptiste, C. G., Battista, M. C., Trottier, A., & Baillargeon, J. P. (2010). Insulin and hyperandrogenism in women with polycystic ovary syndrome. The Journal of steroid biochemistry and molecular biology, 122(1-3), 42-52. https://doi.org/10.1016/j.jsbmb.2009.12.010
  6. Carey, A. H., Waterworth, D., Patel, K., White, D., Little, J., Novelli, P., ... & Williamson, R. (1994). Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. Human molecular genetics, 3(10), 1873-1876. https://doi.org/10.1093/hmg/3.10.1873
  7. Carreau, A. M., & Baillargeon, J. P. (2015). PCOS in adolescence and type 2 diabetes. Current Diabetes Reports, 15(1), 1-9. https://doi.org/10.1007/s11892-014-0564-3
  8. Chazenbalk, G., Trivax, B. S., Yildiz, B. O., Bertolotto, C., Mathur, R., Heneidi, S., & Azziz, R. (2010). Regulation of adiponectin secretion by adipocytes in the polycystic ovary syndrome: role of tumor necrosis factor-α. The Journal of Clinical Endocrinology & Metabolism, 95(2), 935-942. https://doi.org/10.1210/jc.2009-1158
  9. Chen, Z. J., Shi, Y. H., Zhao, Y. R., Li, Y., Tang, R., Zhao, L. X., & Chang, Z. H. (2004). Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome. Zhonghua fu chan ke za zhi, 39(9), 582-585. https://europepmc.org/article/med/15498182
  10. Cooper, H. E., Spellacy, W. N., Prem, K. A., & Cohen, W. D. (1968). Hereditary factors in the Stein-Leventhal syndrome. American Journal of Obstetrics and Gynecology, 100(3), 371-387. https://doi.org/10.1016/S0002-9378(15)33704-2
  11. de Luis, D. A., Aller, R., Conde, R., Izaola, O., de la Fuente, B., & Primo, D. (2012). Relation of the rs9939609 gene variant in FTO with cardiovascular risk factor and serum adipokine levels in morbid obese patients. Nutricion Hospitalaria, 27(4), 1184-1189. https://doi.org/10.3305/nh.2012.27.4.5851
  12. Desai, S. S., Roy, B. S., & Mahale, S. D. (2013). Mutations and polymorphisms in FSH receptor: functional implications in human reproduction. Reproduction, 146(6), R235-R248. https://doi.org/10.1530/REP-13-0351
  13. Diamanti-Kandarakis, E., Alexandraki, K., Bergiele, A., Kandarakis, H., Mastorakos, G., & Aessopos, A. (2004). Presence of metabolic risk factors in non-obese PCOS sisters: evidence of heritability of insulin resistance. Journal of Endocrinological Investigation, 27(10), 931-936.
  14. Diamanti-Kandarakis, E., Palioniko, G., Alexandraki, K., Bergiele, A., Koutsouba, T., & Bartzis, M. (2004). The prevalence of 4G5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in polycystic ovarian syndrome and its association with plasma PAI-1 levels. European journal of endocrinology, 150(6), 793-798. https://doi.org/10.1530/eje.0.1500793
  15. Erel, C. T., Cine, N., Elter, K., Kaleli, S., Senturk, L. M., & Baysal, B. (2002). Leptin receptor variant in women with polycystic ovary syndrome. Fertility and sterility, 78(6), 1334-1335. https://doi.org/10.1016/S0015-0282(02)04352-2
  16. Ferriman, D., & Purdie, A. W. (1979). The inheritance of polycystic ovarian disease and a possible relationship to premature balding. Clinical Endocrinology, 11(3), 291-300. https://doi.org/10.1111/j.1365-2265.1979.tb03077.x
  17. Goodarzi, M. O., Dumesic, D. A., Chazenbalk, G., & Azziz, R. (2011). Polycystic ovary syndrome: etiology, pathogenesis and diagnosis. Nature Reviews Endocrinology, 7(4), 219-231. https://doi.org/10.1038/nrendo.2010.217
  18. Jakubowski, L. (2005). Genetic aspects of plycystic ovary syndrome. Endokrynologia Polska, 56(3), 285-291.
  19. Kahsar-Miller, M. D., Nixon, C., Boots, L. R., Go, R. C., & Azziz, R. (2001). Prevalence of polycystic ovary syndrome (PCOS) in first-degree relatives of patients with PCOS. Fertility and sterility, 75(1), 53-58. https://doi.org/10.1016/S0015-0282(00)01662-9
  20. Livadas, S., & Diamanti-Kandarakis, E. (2012). Polycystic ovary syndrome: definitions, phenotypes and diagnostic approach. Frontiers of Hormone Research, 40, 1-21. https://doi.org/10.1159/000341673
  21. Stankiewicz, M., & Norman, R. (2006). Diagnosis and management of polycystic ovary syndrome. Drugs, 66(7), 903-912. https://doi.org/10.2165/00003495-200666070-00002
  22. Xita, N., Tsatsoulis, A., Chatzikyriakidou, A., & Georgiou, I. (2003). Association of the (TAAAA) n repeat polymorphism in the sex hormone-binding globulin (SHBG) gene with polycystic ovary syndrome and relation to SHBG serum levels. The Journal of Clinical Endocrinology & Metabolism, 88(12), 5976-5980. https://doi.org/10.1210/jc.2003-030197
Recommended Articles
Research Article Open Access
Investigation of Tritrichomonas Foetus in Cattle Using Different Methods in Basrah City – Iraq
2023, Volume 2, Issue 1 : 39-43
DOI: https://doi.org/10.48112/bcs.v2i1.334
Original Article Open Access
A FRAMEWORK OF MONOCLONAL ANTIBODIES AND RELATED PRODUCTION ENGINEERING
2025, Volume 4, Issue 4 : 26-34
Research Article Open Access
The Role of Vitamin D and Zinc In Facing COVID-19 Injury
2022, Volume 1, Issue 1 : 6-10
DOI: https://doi.org/10.48112/bcs.v1i1.76
Research Article Open Access
Prevalence and Risk Factors of Obesity in Children
2022, Volume 1, Issue 1 : 20-23
DOI: https://doi.org/10.48112/bcs.v1i1.81
Biomedicine and Chemical Sciences journal thumbnail
Volume 1, Issue 4
Citations
2 Views
0 Downloads
Share this article
License
Copyright (c) Biomedicine and Chemical Sciences
Creative Commons Attribution License Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
All papers should be submitted electronically. All submitted manuscripts must be original work that is not under submission at another journal or under consideration for publication in another form, such as a monograph or chapter of a book. Authors of submitted papers are obligated not to submit their paper for publication elsewhere until an editorial decision is rendered on their submission. Further, authors of accepted papers are prohibited from publishing the results in other publications that appear before the paper is published in the Journal unless they receive approval for doing so from the Editor-In-Chief.
Biomed. Chem. Sci. open access articles are licensed under a Creative Commons Attribution-ShareAlike 4.0 International License. This license lets the audience to give appropriate credit, provide a link to the license, and indicate if changes were made and if they remix, transform, or build upon the material, they must distribute contributions under the same license as the original.
Biomedicine and Chemical Sciences Logo
Biomedicine and Chemical Sciences
About Us
Biomedicine and Chemical Sciences (BCS), an international journal, publishes double blind peer-reviewed full-length, original papers, reviews or letters. BCS covers the latest developments in various fields of biomedicine such as cardiology, immunology, genetics, environmental health, neurology, oncology and toxicology
Support
Follow Us
facebook twitter linkedin mendeley research-gate
© Copyright Biomedicine and Chemical Sciences (BCS). All Rights Reserved.