CANDIDATE GENES ASSOCIATED WITH POLYCYSTIC OVARY SYNDROME IN ASIAN POPULATIONS: A RESEARCH REVIEW

Abilash Vg

doi:10.22159/ajpcr.2016.v9i5.12432

Authors

Abilash Vg Asst.Professor, School of biosciences and technology, VIT University, Vellore

DOI:

https://doi.org/10.22159/ajpcr.2016.v9i5.12432

Abstract

Polycystic ovary syndrome (PCOS) is a complex genetic condition and is a highly prevalent heterogeneous syndrome of clinical and biochemical
androgen excess. The disease has genetic as well as environmental involvements. The normal menstrual cycle results from a coordination of hormonal secretion and signaling within the hypothalamic pituitary-ovarian axis. Alterations in the normal cycle or irregularity in menstrual cycle result in
amenorrhea, abnormal uterine bleeding, etc. The main causes are PCOS, hormonal imbalance, drugs, nutritional deficiency, personality, some genetic
factors, and many more. Women with PCOS are often resistant to the biological effects of insulin and, as a consequence, may have high insulin levels. Women with PCOS are at risk for type 2 diabetes, high cholesterol, and high blood pressure. Obesity also appears to worsen the condition. The impact
of the syndrome on an individual varies significantly based on several factors such as the severity of the components, comorbidities, and life course
considerations. In addition, each individual experiences the syndrome in the context of her own reproductive health, metabolic, and quality-of-life
concerns. Hirsutism, obesity, and infertility are common complaints. This review article gives a detailed account on the association of candidate genes
associated with PCOS in South Asian population.

Keywords: Anti-mullerian hormone, Growth/differentiation factor 9, The bone morphogenetic protein, Follicle-stimulating hormone, Follistatin,
Cytochrome p450, Polymerase chain reaction-restriction fragment length polymorphism.

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Author Biography

Abilash Vg, Asst.Professor, School of biosciences and technology, VIT University, Vellore

Departmrnt of Biomedical Sciences

Asst. Professor Senior

References

Sahakitrungruang T, Tee MK, Blackett PR, Miller WL. Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 2011;96(3):792-8.

Jakubowski L. Genetic aspects of polycystic ovary syndrome. Endokrynol Pol 2005;56(3):285-93.

Wang Y, Wu XK, Cao YX, Yi L, Zou Y, Qu JW, et al. Microsatellite polymorphism of (tttta) n in the promoter of CYP11a gene in Chinese women with polycystic ovary syndrome. Zhonghua Yi Xue Za Zhi 2005;85(48):3396-400.

Meyer MF, Gerresheim F, Pfeiffer A, Epplen JT, Schatz H. Association of polycystic ovary syndrome with an interstitial deletion of the long arm of chromosome 11. Exp Clin Endocrinol Diabetes 2000;108(8):519-23.

Nelson VL, Legro RS, Strauss JF 3rd, McAllister JM. Augmented androgen production is a stable steroidogenic phenotype of propagated theca cells from polycystic ovaries. Mol Endocrinol 1999;13(6):946-57.

Franks S, Gharani N, McCarthy M. Candidate genes in polycystic ovary syndrome. Hum Reprod Update 2001;7(4):405-10.

Hogg K, Young JM, Oliver EM, Souza CJ, McNeilly AS, Duncan WC. Enhanced thecal androgen production is prenatally programmed in an ovine model of polycystic ovary syndrome. Endocrinology 2012;153(1):450-61.

Franks S, Gharani N, McCarthy M. Genetic abnormalities in polycystic ovary syndrome. Ann Endocrinol (Paris) 1999;60(2):131-3.

Gaasenbeek M, Powell BL, Sovio U, Haddad L, Gharani N, Bennett A, et al. Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone. J Clin Endocrinol Metab 2004;89(5):2408-13.

Jakimiuk AJ, Weitsman SR, Navab A, Magoffin DA. Luteinizing hormone receptor, steroidogenesis acute regulatory protein, and steroidogenic enzyme messenger ribonucleic acids are overexpressed in thecal and granulosa cells from polycystic ovaries. J Clin Endocrinol

Metab 2001;86(3):1318-23.

Daneshmand S, Weitsman SR, Navab A, Jakimiuk AJ, Magoffin DA. Overexpression of theca-cell messenger RNA in polycystic ovary syndrome does not correlate with polymorphisms in the cholesterol side-chain cleavage and 17alpha-hydroxylase/C(17-20) lyase promoters. Fertil Steril 2002;77(2):274-80.

Franks S, Gharani N, Gilling-Smith C. Polycystic ovary syndrome: Evidence for a primary disorder of ovarian steroidogenesis. J Steroid Biochem Mol Biol 1999;69(1-6):269-72.

Strauss JF 3rd. Some new thoughts on the pathophysiology and genetics of polycystic ovary syndrome. Ann N Y Acad Sci 2003;997:42-8.

Urbanek M. The genetics of the polycystic ovary syndrome. Nat Clin Pract Endocrinol Metab 2007;3(2):103-11.

Wood JR, Ho CK, Nelson-Degrave VL, McAllister JM, Strauss JF 3rd. The molecular signature of polycystic ovary syndrome (PCOS) theca cells defined by gene expression profiling. J Reprod Immunol 2004;63(1):51-60.

Franks S, Gharani N, Waterworth D, Batty S, White D, Williamson R, et al. Genetics of polycystic ovary syndrome. Mol Cell Endocrinol 1998;145(1-2):123-8.

Legro RS, Strauss JF. Molecular progress in infertility: Polycystic ovary syndrome. Fertil Steril 2002;78(3):569-76.

Schneyer AL, Wang Q, Sidis Y, Sluss PM. Differential distribution of follistatin isoforms: Application of a new FS315-specific immunoassay. J Clin Endocrinol Metab 2004;89(10):5067-75.

Dasgupta S, Pisapati SV, Kudugunti N, Kathragadda A, Godi S, Reddy MB. Does follistatin gene have any direct role in the manifestation of polycystic ovary syndrome in Indian women? J Postgrad Med 2012;58(3):190-3.

Sang Q, Zhang S, Zou S, Wang H, Feng R, Li Q, et al. Quantitative analysis of follistatin (FST) promoter methylation in peripheral blood of patients with polycystic ovary syndrome. Reprod Biomed Online 2013;26(2):157-63.

Teixeira RJ, Ginzbarg D, Rodrigues Freitas J, Fucks G, Silva CM, Bordallo MA. Serum leptin levels in premature pubarche and prepubertal girls with and without obesity. J Pediatr Endocrinol Metab 2004;17(10):1393-8.

Haller K, Salumets A, Grigorova M, Talja I, Salur L, BÃ©nÃ© MC, et al. Putative predictors of antibodies against follicle-stimulating hormone in female infertility: A study based on in vitro fertilization patients. Am J Reprod Immunol 2007;57(3):193-200.

Liu J, Wang B, Wei Z, Zhou P, Zu Y, Zhou S, et al. Mutational analysis of human bone morphogenetic protein 15 in Chinese women with polycystic ovary syndrome. Metabolism 2011;60(11):1511-4.

Dong J, Albertini DF, Nishimori K, Kumar TR, Lu N, Matzuk MM. Growth differentiation factor-9 is required during early ovarian folliculogenesis. Nature 1996;383(6600):531-5.

Wang B, Zhou S, Wang J, Liu J, Ni F, Yan J, et al. Identification of novel missense mutations of GDF9 in Chinese women with polycystic ovary syndrome. Reprod Biomed Online 2010;21(3):344-8.

Wei LN, Liang XY, Fang C, Zhang MF. Abnormal expression of growth differentiation factor 9 and bone morphogenetic protein 15 in stimulated oocytes during maturation from women with polycystic ovary syndrome. Fertil Steril 2011;96(2):464-8.

de Resende LO, Vireque AA, Santana LF, Moreno DA, de SÃ¡ Rosa e Silva AC, Ferriani RA, et al. Single-cell expression analysis of BMP15 and GDF9 in mature oocytes and BMPR2 in cumulus cells of women with polycystic ovary syndrome undergoing controlled ovarian hyperstimulation. J Assist Reprod Genet 2012;29(10):1057-65.

Li Y, Wei LN, Liang XY. Follicle-stimulating hormone suppressed excessive production of antimullerian hormone caused by abnormally enhanced promoter activity in polycystic ovary syndrome granulosa cells. Fertil Steril 2011;95(7):2354-8, 2358.e1.

Li Y, Liang XY. Effect of follicle stimulating hormone on the secretion of anti-mullerian hormone in the granulosa cells in patients with polycystic ovarian syndrome. Zhonghua fu chan ke za zhi 2012;47(1):5-8.

Mohiyiddeen L, Salim S, Mulugeta B, McBurney H, Newman WG, Pemberton P, et al. PCOS and peripheral AMH levels in relation to FSH receptor gene single nucleotide polymorphisms. Gynecol Endocrinol 2012;28(5):375-7.

Xu P, Shen SM, Zhang XL, Liang F, Xie GB, Yi L, et al. Haplotype analysis of single nucleotide polymorphisms in anti-MÃ¼llerian hormone gene in Chinese PCOS women. Arch Gynecol Obstet 2013;288(1):125-30.

Li L, Lee KJ, Choi BC, Baek KH. Relationship between leptin receptor and polycystic ovary syndrome. Gene 2013;527(1):71-4.

Sun XJ, Rothenberg P, Kahn CR, Backer JM, Araki E, Wilden PA, et al. Structure of the insulin receptor substrate IRS-1 defines a unique signal transduction protein. Nature 1991;352(6330):73-7.

Christopoulos P, Mastorakos G, Gazouli M, Deligeoroglou E, Katsikis I, Diamanti-Kandarakis E, et al. Study of association of IRS-1 and IRS-2 genes polymorphisms with clinical and metabolic features in women with polycystic ovary syndrome. Is there an impact? Gynecol Endocrinol 2010;26(9):698-703.

Ruan Y, Ma J, Xie X. Association of IRS-1 and IRS-2 genes polymorphisms with polycystic ovary syndrome: A meta-analysis. Endocr J 2012;59(7):601-9.

Skrgatic L, Baldani DP, Gersak K, Cerne JZ, Ferk P, Coric M. Genetic polymorphisms of INS, INSR and IRS-1 genes are not associated with polycystic ovary syndrome in Croatian women. Coll Antropol 2013;37(1):141-6.

Chen L, Xu WM, Zhang D. Association of abdominal obesity, insulin resistance, and oxidative stress in adipose tissue in women with polycystic ovary syndrome. Fertil Steril 2014;102(4):1167-1174.e4.