FSHR gene Thr307Ala and Asn680Ser polymorphisms in infertile men: an association study in North China and meta-analysis

Wu, Xiaohua; Xu, Shaofa; Wang, Y Q; Li, Q; Wang, Z Q; Zhang, C L; Shen, Yang

doi:10.4238/2015.may.25.11

Cited by 8 publications

(8 citation statements)

References 31 publications

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“…To resolve the conflicting results, we carried out a meta-analysis to obtain a more precise estimation of the associations. Contrary to previous meta-analyses that found no significant association between FSHR rs1394205 (G-29A), rs6165 (Thr307Ala), or rs6166 (Asn680Ser) polymorphisms and the risk of male infertility [ 2 , 30 , 34 ], this study indicated that the rs6165G allele was associated with increased risk of male infertility, particularly in the subgroup analysis of HWE > 0.05. In addition the rs6166 GG genotype was also observed to be a risk factor for infertility in the subgroup analysis of HWE > 0.05.…”

Section: Discussioncontrasting

confidence: 99%

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The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis

Zhang

Zhu

et al. 2017

BMC Med Genet

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BackgroundMale infertility is a complex disorder caused by genetic, developmental, endocrine, or environmental factors as well as unknown etiology. Polymorphisms in the follicle stimulating hormone beta subunit (FSHB) (rs10835638, c.-211G > T) and follicle stimulating hormone receptor (FSHR) (rs1394205, c.-29G > A; rs6165, c.919A > G; rs6166, c.2039 A > G) genes might disturb normal spermatogenesis and affect male reproductive ability.MethodsTo further ascertain the aforementioned effects, we conducted a case-control study of 255 infertile men and 340 fertile controls from South China using the Mass ARRAY method, which was analyzed by the t-tests and logistic regression analysis using SPSS for Windows 14.0. In addition, a meta-analysis was performed by combining our results with previous reports using STATA 12.0.ResultsIn the FSHB or FSHR gene single nucleotide polymorphism (SNP) evaluation, no statistically-significant difference was found in the frequency of allelic variants or in genotype distribution between cases and controls. However, a significant association for the comparison of GAA (P: 0.022, OR: 0.63, 95%CI: 0.43–0.94) was seen between the oligozoospermia and controls in haplotype analysis of rs1394205/rs6165/rs6166. In the meta-analysis, rs6165G allele and rs6166 GG genotype were associated with increased risk of the male infertility.ConclusionsThis study suggested that FSHR GAA haplotype would exert protective effects against male sterility, which indicated that the combination of three SNP genotypes of FSHR was predicted to have a much stronger impact than either one alone. Then in the meta-analysis, a significant association was seen between FSHR rs6165, rs6166 polymorphisms and male infertility. In terms of male infertility with multifactorial etiology, further studies with larger sample sizes and different ethnic backgrounds or other risk factors are warranted to clarify the potential role of FSHB and FSHR polymorphisms in the pathogenesis of male infertility.

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Section: Discussioncontrasting

confidence: 99%

“…A total of 15 studies, 4 studies from Asian population [ 24 , 28 – 30 ] and 11 studies from non-Asian population [ 1 , 13 , 14 , 16 , 17 , 22 , 31 – 35 ], met the inclusion criteria (Fig. 1 ).…”

Section: Resultsmentioning

confidence: 99%

The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis

Zhang

Zhu

et al. 2017

BMC Med Genet

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“…Most of the reports suggest no significant differences in carrier frequencies of individual FSHR Asn680Ser polymorphic variants between infertile and fertile men from various ethnic groups 6,8,9,[27][28][29][30][31][32][33][34][35][36] . The same results were obtained in a meta-analysis of these studies [8][9][10][11] . Similarly, the effect of Asn680Ser FSHR isoforms on clinical reproductive parameters such as FSH level, sperm count and total testis volume also failed to show any consistent associations 16,[28][29][30]33,34,37,38 .…”

Section: Discussionsupporting

confidence: 81%

“…For example, Wu et al report that homozygous combination of FSHR gene polymorphism at codon 307 and 680 (i.e. Thr/Thr + Asn/Asn) may be responsible for male infertility in patients from north China 11 . In addition, Lindgren et al report that Thr307-Asn680 homozygotes in a Swedish cohort of young men among others exhibited lower serum FSH and higher total testosterone concentrations, as well as larger testis volume and higher sperm count when compared with heterozygotes and Ala307-Ser680 homozygote carriers 39 .…”

Section: Discussionmentioning

confidence: 99%

“…Up to date, several case-control studies and their meta-analyses were conducted to evaluate the association between the FSHR polymorphic regions and male infertility [7][8][9][10][11][12] . Although mostly inconclusive, some of them revealed significant difference in the distribution of FSHR 2039A>G allelic variants between infertile men and fertile healthy controls, thus showing that ethnic differences could be contributory 7,[12][13][14] .…”

Section: The Frequency Of Follicle-stimulating Hormone Receptor 2039amentioning

confidence: 99%

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The Frequency of Follicle-Stimulating Hormone Receptor 2039A>G Gene Polymorphism and the Risk of Male Infertility in Albanian Population

Elezaj

Paić²,

Stipoljev³

et al. 2020

ACC

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The purpose of this study was to determine the prevalence of allele and genotype variants of the follicle-stimulating hormone receptor (FSHR) gene polymorphic region at position Asn680Ser in the Albanian male population and associate them with the clinical parameters of infertility. The study included 114 infertile men (mean age 35.04±5.85 years) stratified according to the level of spermatogenetic impairment (oligoasthenozoospermia, asthenozoospermia and normospermia) and 112 fertile men (mean age 36.44±7.05 years) with normal semen parameters. Genotyping of the FSHR gene at position 680 was performed by TaqMan genotyping assay. All the participants underwent semen analysis, and serum reproductive hormones (FSH, luteinizing hormone, prolactin and testosterone) were also measured. The FSHR Asn680Ser genotype frequencies were as follows: Asn/Ser 42%, Ser/Ser 33.9% and Asn/Asn 24.1% in the control group, and Asn/Ser 56.1%, Ser/Ser 22.8% and Asn/Asn 21.1% in the whole group of infertile men (χ 2-test: P=0.08). There was no statistically significant correlation between serum hormone levels and semen characteristics or between fertility status and FSHR Asn680Ser gene variants in the control group and the group of infertile men. However, adjusted logistic regression analysis (age, body mass index, smoking and alcohol as covariates) revealed increased odds ratio for male infertility among heterozygous Asn/Ser genotype carriers associated with lower values of semen parameters (normal morphology, concentration, total sperm count and motility). In conclusion, our case-control study further confirmed previous reports on no significant association between the FSHR Asn680Ser polymorphisms and male infertility. Nevertheless, the data presented herein indicate that the Asn/Ser genotype may increase the risk of male infertility in Albanian population.

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Gonadotrophin Receptors

Casarini¹,

Huhtaniemi²,

Simoni³

et al. 2016

Endocrinology

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The two gonadotrophin receptors (GnRs), luteinizing hormone receptor (LHCGR) and follicle-stimulating receptor (FSHR), belong to the glycoprotein hormone receptor subgroup of type A G protein-coupled receptors (GPCRs). LHCGR binds specifically the two structurally similar gonadotrophins, luteinizing hormone (LH) and human chorionic gonadotrophin (hCG), and FSHR binds follicle-stimulating hormone (FSH). The receptors reside on plasma membrane and transmit the gonadotrophin signal to target cells using the classical Gs/adenylyl cyclase/cyclic AMP/protein kinase A signaling cascade. Other signaling pathways (e.g., inositol phosphate, calcium) are activated at pharmacological hormone concentrations or at high receptor density. LHCGR is expressed in testicular Leydig cells and in ovarian theca, luteinizing granulosa and luteal cells. FSHR is expressed in testicular Sertoli cells and ovarian granulosa cells. LHCGR activation stimulated Leydig cell steroidogenesis, in particular testosterone production, while FSHR maintains Sertoli cell metabolism, thereby indirectly stimulating spermatogenesis. Recent basic research, using GnR, expressing cells in vitro and genetically modified mice in vivo, has elucidated novel aspects of the molecular mechanisms of gonadotrophin receptor function. The crystal structure of GnRs has also been partly resolved. Numerous inactivating and activating GnR mutations that have been discovered in patients have unraveled the molecular basis of hypogonadism and other aberrations of reproductive endocrine functions. The purpose of this chapter is to review the recent trends of GnR research and how it has elucidated the molecular mechanisms of GnR function and the role of GnR in human reproductive physiology and pathophysiology

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FSHR gene Thr307Ala and Asn680Ser polymorphisms in infertile men: an association study in North China and meta-analysis

Cited by 8 publications

References 31 publications

The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis

The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis

The Frequency of Follicle-Stimulating Hormone Receptor 2039A>G Gene Polymorphism and the Risk of Male Infertility in Albanian Population

Gonadotrophin Receptors

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