Association Between FSHR Polymorphisms and Polycystic Ovary Syndrome Among Chinese Women in North China

Overview

Journal J Assist Reprod Genet

Publisher Springer

Specialties Genetics
Reproductive Medicine

Date 2014 Jan 7

PMID 24390680

Citations 21

Authors

Xue-Qing Wu

Su-ming Xu

Jun-Fen Liu

Xing-Yu Bi

Yuan-Xia Wu

Jing Liu

Affiliations

Soon will be listed here.

Abstract

Purpose: Polycystic ovary syndrome (PCOS) is a common endocrine disorder disease among women in reproductive-age. Since follicle stimulating hormone (FSH) exerts important biological functions, the association between PCOS and FSH receptor (FSHR) polymorphisms attracts wide attention. The aim of this study was to evaluate whether polymorphisms of FSHR at 307 and 680 codons are associated with PCOS patients in China.

Methods: Patients with PCOS (n = 215) and controls (n = 205) were recruited from Shanxi Province in north China. They are Han ethnics. Genomic DNA was isolated from the venous blood. The Ala307Thr and Ser680Asn polymorphisms of FSHR were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct DNA sequencing.

Results: The distributions of genotype and allele of Ala307Thr and Ser680Asn polymorphisms of FSHR were not statistically different between the PCOS patients and the controls. Analysis of the frequency of FSHR polymorphisms showed no statistical difference among the PCOS patients with different obesity standards. Although there were no statistical differences in the most of the endocrine parameters including LH, LH/FSH, E2, P and T as well as the clinical pregnancy rate, there were significant differences in the levels of FSH and PRL among PCOS patients carrying different genotypes of Ala307Thr and Ser680Asn polymorphisms.

Conclusion: The Ala307Thr and Ser680Asn polymorphisms of FSHR are not associated with PCOS in Han ethnic Chinese women in north China. The FSHR polymorphisms was related to the levels of FSH and PRL but not other PCOS-associated endocrine hormones as well as clinical pregnancy rate in PCOS patients of Han Chinese ethnical population.

Citing Articles

Polymorphisms in FSHR modulating susceptibility to polycystic ovary syndrome: an updated meta-analysis.

Kaur M, Singh S, Kaur A J Ovarian Res. 2023; 16(1):183.

PMID: 37653412 PMC: 10472705. DOI: 10.1186/s13048-023-01238-7.

Association Between Follicle-Stimulating Hormone Receptor (FSHR) rs6166 and Estrogen Receptor 1 (ESR1) rs2234693 Polymorphisms and Polycystic Ovary Syndrome Risk, Phenotype, and Reproductive Outcomes in an Infertile Portuguese Population.

Vieira I, Carvalho A, Almeida Reis S, Carreira A, Dias C, Fernandes S Cureus. 2023; 15(3):e35690.

PMID: 37012960 PMC: 10066722. DOI: 10.7759/cureus.35690.

Analyzing the Impact of FSHR Variants on Polycystic Ovary Syndrome-a Case-Control Study in Punjab.

Kaur M, Singh S, Kaur R, Beri A, Kaur A Reprod Sci. 2023; 30(8):2563-2572.

PMID: 36821034 DOI: 10.1007/s43032-023-01194-z.

Association of FSHR and DENND1A polymorphisms with polycystic ovary syndrome: a meta-analysis.

Larsen C, Kudela E, Biringer K JBRA Assist Reprod. 2022; 27(1):60-70.

PMID: 36350975 PMC: 10065767. DOI: 10.5935/1518-0557.20220043.

An update on polycystic ovary syndrome: A review of the current state of knowledge in diagnosis, genetic etiology, and emerging treatment options.

Islam H, Masud J, Islam Y, Haque F Womens Health (Lond). 2022; 18:17455057221117966.

PMID: 35972046 PMC: 9386861. DOI: 10.1177/17455057221117966.

References

Gambineri A, Pelusi C, Vicennati V, Pagotto U, Pasquali R . Obesity and the polycystic ovary syndrome. Int J Obes Relat Metab Disord. 2002; 26(7):883-96. DOI: 10.1038/sj.ijo.0801994. View

Sudo S, Kudo M, Wada S, Sato O, Hsueh A, Fujimoto S . Genetic and functional analyses of polymorphisms in the human FSH receptor gene. Mol Hum Reprod. 2002; 8(10):893-9. DOI: 10.1093/molehr/8.10.893. View

Valkenburg O, Uitterlinden A, Piersma D, Hofman A, Themmen A, de Jong F . Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome. Hum Reprod. 2009; 24(8):2014-22. DOI: 10.1093/humrep/dep113. View

Sundblad V, Chiauzzi V, Escobar M, Dain L, Charreau E . Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF). Mol Cell Endocrinol. 2004; 222(1-2):53-9. DOI: 10.1016/j.mce.2004.05.002. View

. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertil Steril. 2004; 81(1):19-25. DOI: 10.1016/j.fertnstert.2003.10.004. View

Fauser B, van Heusden A . Manipulation of human ovarian function: physiological concepts and clinical consequences. Endocr Rev. 1997; 18(1):71-106. DOI: 10.1210/edrv.18.1.0290. View

Du J, Zhang W, Guo L, Zhang Z, Shi H, Wang J . Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome. Mol Genet Metab. 2010; 100(3):292-5. DOI: 10.1016/j.ymgme.2010.03.018. View

Guo M, Chen Z, Eijkemans M, Goverde A, Fauser B, Macklon N . Comparison of the phenotype of Chinese versus Dutch Caucasian women presenting with polycystic ovary syndrome and oligo/amenorrhoea. Hum Reprod. 2012; 27(5):1481-8. DOI: 10.1093/humrep/des018. View

Perez Mayorga M, Gromoll J, Behre H, Gassner C, Nieschlag E, Simoni M . Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. J Clin Endocrinol Metab. 2000; 85(9):3365-9. DOI: 10.1210/jcem.85.9.6789. View

10.

Zhang C, Zhang X, Xia Y, Cao Y, Wang W, Xu P . Association between polymorphisms of the CYP11A1 gene and polycystic ovary syndrome in Chinese women. Mol Biol Rep. 2012; 39(8):8379-85. DOI: 10.1007/s11033-012-1688-7. View

11.

Dolfin E, Guani B, Lussiana C, Mari C, Restagno G, Revelli A . FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women. J Assist Reprod Genet. 2011; 28(10):925-30. PMC: 3220439. DOI: 10.1007/s10815-011-9619-4. View

12.

Fu L, Zhang Z, Zhang A, Xu J, Huang X, Zheng Q . Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women. J Assist Reprod Genet. 2013; 30(5):717-21. PMC: 3663969. DOI: 10.1007/s10815-013-9979-z. View

13.

Archer J, Chang R . Hirsutism and acne in polycystic ovary syndrome. Best Pract Res Clin Obstet Gynaecol. 2004; 18(5):737-54. DOI: 10.1016/j.bpobgyn.2004.05.007. View

14.

Lussiana C, Guani B, Mari C, Restagno G, Massobrio M, Revelli A . Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene. Obstet Gynecol Surv. 2008; 63(12):785-95. DOI: 10.1097/OGX.0b013e31818957eb. View

15.

Shen Y, Wang L, Zhao Y, You L, Geng L, Gu H . Evaluation of the association between GHR exon 3 polymorphism and polycystic ovary syndrome among Han Chinese women. Growth Horm IGF Res. 2011; 21(5):248-51. DOI: 10.1016/j.ghir.2011.07.002. View

16.

Xu X, Shi Y, Cui Y, Ma J, Che L, Chen Z . Endocrine and metabolic characteristics of polycystic ovary syndrome in Chinese women with different phenotypes. Clin Endocrinol (Oxf). 2011; 76(3):425-30. DOI: 10.1111/j.1365-2265.2011.04194.x. View

17.

Laven J, Mulders A, Suryandari D, Gromoll J, Nieschlag E, Fauser B . Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility. Fertil Steril. 2003; 80(4):986-92. DOI: 10.1016/s0015-0282(03)01115-4. View

18.

Franks S . Polycystic ovary syndrome. N Engl J Med. 1995; 333(13):853-61. DOI: 10.1056/NEJM199509283331307. View

19.

Unsal T, Konac E, Yesilkaya E, Yilmaz A, Bideci A, Onen H . Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome. J Assist Reprod Genet. 2009; 26(4):205-16. PMC: 2682189. DOI: 10.1007/s10815-009-9308-8. View

20.

Gromoll J, Pekel E, Nieschlag E . The structure and organization of the human follicle-stimulating hormone receptor (FSHR) gene. Genomics. 1996; 35(2):308-11. DOI: 10.1006/geno.1996.0361. View