» Articles » PMID: 28547204

FSH Receptor Gene P. Thr307Ala and P. Asn680Ser Polymorphisms Are Associated with the Risk of Polycystic Ovary Syndrome

Overview
Publisher Springer
Date 2017 May 27
PMID 28547204
Citations 16
Authors
Affiliations
Soon will be listed here.
Abstract

Purpose: The purpose of this study was to investigate whether the follicle-stimulating hormone receptor (FSHR) gene p. Thr307Ala (c.919A>G, rs6165) and p. Asn680Ser (c.2039A>G, rs6166) polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS).

Methods: Genotyping was performed in 377 women with PCOS and 388 age-matched controls. Difference in the genotype distribution was assessed using a Fisher's exact or chi-square test, and continuous variables were compared using a Student's t test. To evaluate the association between the presence of PCOS status and SNP, logistic regression analyses were performed.

Results: Linkage disequilibrium between the two polymorphisms was approximately complete (r  = 99%). The genotype distributions of the PCOS group significantly differed from those of the control group (Thr/Thr, Thr/Ala, and Ala/Ala frequencies were 38.5, 46.7, and 14.9% for the PCOS group and 46.6, 45.4, and 8.0% for the controls, respectively, P = .005; Asn/Asn, Asn/Ser, and Ser/Ser frequencies were 39.5, 47.2, and 13.3% for the PCOS group and 46.4, 45.4, and 8.2% for the controls, respectively, P = .035). Using the wild-type genotypes as the references, the odds ratios that a woman has PCOS were 2.23 (95% confidence intervals 1.38-3.68) for the Ala/Ala genotype, 1.87 (95% confidence intervals 1.14-3.06) for the Ser/Ser genotype, and 1.96 (95% confidence intervals 1.19-3.24) for the homozygous variant combination (Ser/Ser-Ala/Ala). However, there were no significant differences in serum hormonal, ovarian, and metabolic markers according to each genotype.

Conclusions: Findings of this study suggest a significant association between FSHR gene p. Thr307Ala or p. Asn680Ser coding sequence change and PCOS. The variant homozygote genotype results in a higher risk of PCOS.

Citing Articles

Follicle-Stimulating Hormone Receptor and Estrogen Receptor Gene Polymorphisms in Women With Discordant Follicle-Stimulating Hormone and Anti-Mullerian Hormone Levels.

Aktas G, Bertizlioglu M, Yilmaz S, Kebapcilar A, Celik C, Secilmis O Cureus. 2024; 16(5):e60446.

PMID: 38883018 PMC: 11179686. DOI: 10.7759/cureus.60446.


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.


Molecular Role of Asn680Ser and Asp37Glu Missense Variants in Saudi Women with Female Infertility and Polycystic Ovarian Syndrome.

Alshammary A, Alsobaie S, Alageel A, Aldakheel F, Ansar S, Alrashoudi R Curr Issues Mol Biol. 2023; 45(7):5494-5514.

PMID: 37504264 PMC: 10378235. DOI: 10.3390/cimb45070348.


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.


References
1.
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

2.
Mohiyiddeen L, Salim S, Mulugeta B, McBurney H, Newman W, Pemberton P . PCOS and peripheral AMH levels in relation to FSH receptor gene single nucleotide polymorphisms. Gynecol Endocrinol. 2012; 28(5):375-7. DOI: 10.3109/09513590.2011.633649. View

3.
Hayes M, Urbanek M, Ehrmann D, Armstrong L, Lee J, Sisk R . Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat Commun. 2015; 6:7502. PMC: 4557132. DOI: 10.1038/ncomms8502. View

4.
Overbeek A, Kuijper E, Hendriks M, Blankenstein M, Ketel I, Twisk J . Clomiphene citrate resistance in relation to follicle-stimulating hormone receptor Ser680Ser-polymorphism in polycystic ovary syndrome. Hum Reprod. 2009; 24(8):2007-13. DOI: 10.1093/humrep/dep114. View

5.
Layman L, Amde S, Cohen D, Jin M, Xie J . The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. Fertil Steril. 1998; 69(2):300-2. DOI: 10.1016/s0015-0282(97)00480-9. View