Genetic Polymorphisms in Polycystic Ovarian Syndrome

Authors

DOI:

https://doi.org/10.48112/bcs.v1i4.264

Abstract

Abstract Views: 154

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:

Genetics Polymorphisms, HDL-cholesterol, Polycystic ovary syndrome

Metrics

Metrics Loading ...

References

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., 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), 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

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

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., 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.

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. https://doi.org/10.1016/S0015-0282(02)04352-2

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. (2012). Polycystic ovary syndrome: definitions, phenotypes and diagnostic approach. Frontiers of Hormone Research, 40, 1-21. https://doi.org/10.1159/000341673

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

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

Genetic Polymorphisms in Polycystic Ovarian Syndrome

Published

2022-10-01

How to Cite

Alfahdawi, S. M. S. (2022). Genetic Polymorphisms in Polycystic Ovarian Syndrome. Biomedicine and Chemical Sciences, 1(4), 259–263. https://doi.org/10.48112/bcs.v1i4.264

Issue

Section

Articles