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

Overview

Journal J Assist Reprod Genet

Publisher Springer

Specialties Genetics
Reproductive Medicine

Date 2017 May 27

PMID 28547204

Citations 16

Authors

Jin Ju Kim

Young Min Choi

Min A Hong

Soo Jin Chae

Kyuri Hwang

Sang Ho Yoon

Seung Yup Ku

Chang Suk Suh

Seok Hyun Kim

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

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

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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.

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

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