The Genetic Polymorphisms in Polycystic Ovarian Syndrome
DOI:
https://doi.org/10.5281/zenodo.15776198Abstract
Abstract Views: 238
The polycystic ovarian syndrome can be defined as an endocrine disorder that most affects the reproductive system of women of childbearing age; its causes aren't exactly known. However, the majority of the experts agree that it's a multifactorial entity with multiple factors. Genetics is becoming increasingly important. In recent years, several genes that are involved in pathogenic processes of this syndrome have been identified. Within these, the most important ones are the ones that encode for 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 were obtained:
- 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.
- PCOS women had significantly higher levels of LH, FSH, LH/FSH ratio, and total testosterone compared to controls.
- 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.
- PCOS women had significantly higher levels of total cholesterol, triglyceides, LDL cholesterol, VLDL cholesterol, and lower levels of HDL-cholesterol compared to controls.
- 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.
- The genotype analysis of FSHR gene polymorphism showed that the heterozygote Ala/Thr genotype was significantly more frequent in PCOS patients than controls (64.1% versus 40%).
Keywords:
Endocrine disorder, Genetic polymorphisms, Polycystic ovary syndrome, Reproductive system of womenReferences
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
Azziz, R. (2004). PCOS: a diagnostic challenge. Reproductive Biomedicine Online, 8(6), 644-648. https://doi.org/10.1016/S1472-6483(10)61644-6
Azziz, R. (2006). Diagnosis of polycystic ovarian syndrome: the Rotterdam criteria are premature. The Journal of Clinical Endocrinology & Metabolism, 91(3), 781-785. https://doi.org/10.1210/jc.2005-2153
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
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
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
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
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
Carreau, A. M., & Baillargeon, J. P. (2015). PCOS in adolescence and type 2 diabetes. Current Diabetes Reports, 15, 1-9. https://doi.org/10.1007/s11892-014-0564-3
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
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
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
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
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
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.
ESHRE, T. R., & ASRM-Sponsored PCOS Consensus Workshop Group. (2004). Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertility and sterility, 81(1), 19-25.
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
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
Jakubowski, L. (2005). Genetic aspects of plycystic ovary syndrome. Endokrynologia Polska, 56(3), 285-291.
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
Livadas, S., & Diamanti-Kandarakis, E. (2013). Polycystic ovary syndrome: definitions, phenotypes and diagnostic approach. Frontiers of Hormone Research, 40, 1-21. https://doi.org/10.1159/000341673
Norman, R. J., Wu, R., & Stankiewicz, M. T. (2004). 4: Polycystic ovary syndrome. The Medical Journal of Australia, 180(3), 132-137. https://doi.org/10.5694/j.1326-5377.2004.tb05838.x
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
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Biomedicine and Chemical Sciences
This work is licensed under a Creative Commons Attribution 4.0 International License.
