FSH Receptor Gene Polymorphisms Research Articles

Significance of FSHR and LHCGR gene polymorphisms on clinical outcomes in gonadotropin-releasing hormone antagonist protocol with freeze-all strategy: A case-control study.

Follicle-stimulating hormone receptor (FSHR) and luteinizing hormone/choriogonadotropin receptor (LHCGR) are integral to ovarian function, facilitating follicle development and maturation through their respective hormonal interactions. The influence of receptor polymorphisms on the outcomes of freeze-all cycles remains unclear. This study investigates the impact of FSHR N680S and LHCGR N312S polymorphisms on clinical outcomes in freeze-all cycles. Women undergoing controlled ovarian stimulation for assisted reproductive technology participated in this study. They were administered a gonadotropin-releasing hormone antagonist protocol, with recombinant follicle-stimulating hormone (rFSH) dosages adjusted according to age, body mass index, antral follicle count, and individual hormonal responses. Additionally, human menopausal gonadotropin dosages were tailored based on the LHCGR N312S genetic variant. Analysis revealed no significant differences in age, body mass index, antral follicle count, or marital status across the genotypes of FSHR N680S and LHCGR N312S. However, notable differences were observed in the rFSH dosage required daily and in total among the FSHR polymorphism genotypes. Genotypes of the LHCGR polymorphism correlated with fewer stimulation days. A significant interaction was observed between the 2 polymorphisms concerning total rFSH dosage. The presence of serine in the FSHR polymorphism was associated with higher rFSH dosage requirements. Both FSHR N680S and LHCGR N312S polymorphisms significantly influenced clinical pregnancy and live birth outcomes in freeze-all cycles, underscoring the potential of a pharmacogenomic approach to optimize hormone supplementation in controlled ovarian stimulation protocols during assisted reproductive technology treatments.

Follicle-stimulating hormone receptor gene polymorphisms influence Body Mass Index, metabolism, and bone mineral density in postmenopausal women.

Covering a significant part of a woman's life, the postmenopausal phase is often associated with the onset of obesity, metabolic dysfunction, osteoporosis, and their most disabling complications. In this context, scant evidence from both preclinical and clinical studies suggests that single nucleotide polymorphisms (SNPs) of the follicle-stimulating hormone receptor (FSHR) gene might be involved in the etiopathogenesis of these conditions, posing them as possible molecular predictors of their development. Therefore, this study aimed to evaluate the role of the FSHR gene SNPs c.2039A>G and c.-29 G>A on Body Mass Index (BMI), metabolic parameters, and bone metabolism in postmenopausal women. To achieve this goal, 49 postmenopausal Caucasian women aged from 45 to 80 years and with no factors known to influence metabolism and/or bone mineral density (BMD) were enrolled and assessed for their medical history, medical family history, anthropometric parameters and hormonal, metabolic and lipid profiles, and BMD. Then, they were genotyped for the FSHR gene SNPs c.2039A>G and c.-29G>A. Finally, the resulting data were classified according to woman's genotypes and subjected to statistical analysis. No significant differences were found between the distributions of most endpoint parameters examined by genotype. However, none of the women with the c.2039A>G FSHR GG gene SNP were affected by obesity and had the highest lumbar BMD z-score within the cohort. Additionally, those with the FSHR c.-29G>A AA genotype had the lowest serum glucose levels. This preliminary study suggests that the FSHR c.2039A>G GG SNP, which is associated with reduced sensitivity of the FSHR, may have a protective role against obesity, offering further evidence for the possible association among FSH, FSHR polymorphisms, and insulin metabolism.

Impact of Follicle Stimulating Hormone Receptor (FSHR) Polymorphism on the Efficiency of Co-Treatment with Growth Hormone in a Group of Infertile Women from Romania.

“Poor responders” (PR) are an important category of infertile women who experience a modest response to controlled ovarian stimulation. In this study, we evaluated response to growth hormone (GH) administration among PR patient subtypes stratified by follicle stimulation hormone receptor (FSHR) polymorphism (c.2039A > G p.Asn680Ser). We conducted a cohort study of 125 women with poor ovarian response, 58 of whom received GH in addition to the standard treatment, and 67 of whom received the standard treatment only. The Ala307Thr polymorphism genotypes were analyzed using a polymerase chain reaction-restriction fragment length polymorphism method, and the FSHR gene polymorphism was analyzed using a predesigned TaqMan SNP Genotyping Assay (rs6166). A comparative analysis detected statistically significant differences in mean mature follicles (p = 0.0002), metaphase-II oocytes (p = 0.0005), progesterone levels (p = 0.0036), and IGF levels (follicle IGF1, p = 0.0004) between GH-treated and non-GH-treated participants with the FSHR (Ser/Ser) polymorphism. However, the differences were modest among participants with the other two FSHR polymorphisms (Ser/Asn and Asn/Asn). The subcategory of patients with the FSHR Asn680Ser (Ser/Ser) polymorphism showed a stronger response when GH was added to the IVF protocol.

Effect of LHCGR and FSHR gene polymorphisms on fertility traits and milk yield of cross-bred dairy cows in Sri Lanka

Single nucleotide polymorphism (SNP) analysis of fertility genes will be useful in improving the genetic potential of dairy cows. A population of 142 cross-bred dairy cows was screened for SNPs in bovine luteinizing hormone choriogonadotropin receptor (LHCGR) and bovine follicle stimulating hormone receptor (FSHR) genes. The effect of reported SNPs on selected fertility traits (average calving interval, average number of services per conception and age at first calving) and milk yield was determined. Altogether six SNPs were detected in animals screened under the present study. Among them, four SNPs (rs41256848, rs41256850, rs465790244, and rs45463781) were located in the exon 11 region of the LHCGR gene and two SNPs (rs43676359 and G-278-A (GU253337) were located in the five upstream region of the FSHR gene. Minor alleles identified for SNPs in the FSHR gene in the studied small population of cows differed from those reported in other research. In this study, only rs45463781 SNP at exon 11 of the LHCGR gene significantly affected the average milk yield in cross-bred cows. The nucleotide change from “G” to “A” negatively affected the average milk yield. Further investigations are needed to confirm the reported association with a larger sample size.

Does Follicle-Stimulating Hormone Receptor Polymorphism Status Affect In vitro Fertilization-Intracytoplasmic Sperm Injection Results and Live Birth Rate? A Retrospective Study.

ABSTRACTBackground:Follicle-stimulating hormone (FSH) plays a key role in fertility and shows its effect through the FSH receptor (FSHR), which is localized in cells.Aims:The aim of this study was to examine pregnancy outcomes and responses to controlled ovarian stimulation according to FSHR polymorphism types.Study Setting and Design:The study was retrospective, and included patients who applied to the University of Health Sciences Tepecik Training and Research Hospital in vitro fertilization (IVF) Unit during 2018 and 2019.Materials and Methods:Patients who underwent IVF-intracytoplasmic sperm injection and at the same time studied FSHR gene polymorphism in the genetic unit of our hospital were included in the study.Statistical Analysis:The Kruskal–Wallis test was used for multiple comparisons of continuous variables. The Chi-square test was used for categorical variables between groups.Results:A total of 143 patients who met our criteria were included in the study. 14% (n = 20) of the patients are also homozygous natural (Asn/Asn) type; 44.7% (n = 64) of the heterozygous mutant (Asn/Ser) type; 41.3% (n = 59) of them were homozygous mutant (Ser/Ser) type. There was no statistically significant difference between the groups in terms of pregnancy rate per started cycle, ongoing pregnancy per started cycle, ongoing pregnancy per embryo transfer and live birth per embryo transfer. A significant difference was observed between peak E2 and peak progesterone levels between Asn/Ser and Ser/Ser groups, and the levels of these hormones were lower in the Ser/Ser group (P = 0.018 and P = 0.016, respectively). Ovarian responses were classified as poor (≤3 oocytes), normal (4-20 oocytes) and hyperresponse (≥20 oocytes) according to the oocyte count. Accordingly, the number of patients with poor response was higher in the Ser/Ser group (P = 0.011).Conclusions:Ser/Ser polymorphism is characterised by a poor ovarian response. Despite this, polymorphisms in the FSHR gene do not seem to affect the results of pregnancy per started cycle, ongoing pregnancy per started cycle, ongoing pregnancy per embryo transfer and live birth per embryo transfer.

Association of FSHR gene polymorphisms with endometriosis in women visiting tertiary-care hospitals of Lahore, Pakistan.

The study aimed to explore the association of endometriosis risk factors with single nucleotide polymorphisms rs6166 and rs6165 (Asn680Ser and Ala307Thr) of follicle stimulating hormone receptor (FSHR) gene in Pakistani women. This study was conducted from 2013 to 2016. The sampling and extraction of DNA was done in Department of Zoology GC University, Lahore, while the sequencing was performed at Yale University, USA. This case control study consisted of 364 subjects including 156 women diagnosed with endometriosis and 208 conveniently recruited controls. Subjects diagnosed at stage II-IV endometriosis with infertility were pooled for study. The women with adenomyosis, ovarian cancer and leiomyoma were excluded. The whole blood leukocytes were used for DNA extraction. Two important polymorphisms of exon 10 of FSHR gene were analyzed by direct DNA sequencing both in endometriosis and controls. Genetic variant SNP rs6166 in the affected endometriosis subjects exhibited high incidence of allele "A" (Asn/Asn) 68.3% as compared to controls 33.7% (OR= 4.240; P =0.001). Similarly, the allele "A" of SNP rs6165 (Thr/Thr) was more frequent in endometriosis 67.3% than in control subjects 37.5% (OR =3.430, P =0.001). The occurrence of haplotype AA (Asn/Thr) was 45.5% in endometriosis and 11 % in control subjects (P= 0.001). Remarkably, the incidence of haplotype GG (Ser/Ala) was contrary to previous observations, since only 9.9% occurred in endometriosis as opposed to 45.2% in controls (P= 0.001). Investigation of FSHR gene polymorphisms rs6165and rs6166 (Ala307Thr and Asn680Ser) in the current study showed that haplotype AA (680Asn/307Thr) was associated with endometriosis in Pakistani women.

Genetic and Biochemical Markers of Ovarian Function and Their Impact on Women Reproductive Status

Endometriosis is a disease very common nowadays affecting 1-2% of the female population, by estrogen-dependent mechanism. The identification of mutations in the gene encoding for the FSH receptor (FSHR) has been reported since 1995. Physiology teaches us that follicle-stimulating hormone (FSH) is a hormone that is vital in the steroidogenesis regulation mechanisms, while FSH receptor (FSHR) activation helps to promote folliculogenesis and estrogensynthesis. Therefore, studies to show if there are any correlations between endometriosis and FSHR are acquired. Genotyping of FSHR gene polymorphisms were performed using PCR - Restriction Fragment Length Polymorphism (PCR-RFLP) analysis. We analysed a total of 78 patients, 44 infertile patients with endometriosis and 34 controls (non-infertile, pregnant patients). The endometriosis group included women with diagnosis of endo-metriosis confirmed by laparoscopy and /or laparotomy and histological evidence of disease with the endometriosis staging according to American Society for Reproductive Medicine (ASRM). Corroborated with the severity of endometriosis, A919G and A2039G tests found that 71.4% of the M (GG) results were associated with primary infertility, not statistically significant (p=0.994) and 42.9% of the total M results had moderate or severe forms of endometriosis (p = 0.185). The genetic involvement in different pathologies such as endometriosis, has yet to be understood, but knowing more about its mechanism, will help physician target the disease at a more profound level.

Effect of the FSH receptor polymorphism on the age at menarche

Summary: Estrogen and estrogen receptor (ER) genes have an effect on the age at menarche. Follicle stimulating hormone (FSH) is an important hormone that plays a major role in the regulation of folliculogenesis and estrogen synthesis. The aim of this study was to investigate the influence of the FSH receptor (FSHR) polymorphisms Asn680Ser and Thr307Ala on age at menarche. Materials and Methods: FSH receptor gene polymorphisms were investigated in women who were admitted to Selcuk University between May 2013 and November 2014. Information about age at menarche was obtained through interviews. Polymorphic analysis of the FSH receptor gene was performed in 209 healthy female patients who had undergone an annual health examination. Genomic DNA was obtained from peripheral blood leukocytes, and polymorphisms were investigated using restriction fragment length polymorphism analysis. Results: The mean age at menarche was 12.95 ± 1.62 years. The overall frequencies for Asn680Ser variants NN, NS, and SS were 40.2%, 36.4%, and 23.4%, respectively, whereas Thr307Ala variants TT, TA, and AA were 34.4%, 41.1%, and 24.4%, respectively. Menarche occurred 3.6 months earlier in subjects with TN homozygote genotype than in AS homozygotes, and the mean age at menarche was 2.5 months earlier in TN homozygotes compared with that in all other study subjects, but the differences were not statistically significant (p = 0.966 and p = 0.986, respectively). Conclusions: The Ala307Thr and Ser680Asn polymorphisms of the FSHR gene are not associated with age at menarche.

FSHR (exon 10) gene polymorphisms and its association with fertility trait in Egyptian Ossimi sheep

For the association between of Follicle stimulating hormone receptor (FSHR) gene (partial part of exon 10) polymorphisms and litter size trait in Egyptian Ossimi sheep, polymerase chain reaction-single stranded conformational polymorphism (PCR-SSCP) and DNA sequencing techniques were developed. Fifty female Ossimi sheep reared under Egyptian conditions were selected according to their litter size. DNA from blood samples of these animals was isolated to amplify 250-bp of the FSHR gene influencing litter size production trait in sheep. Based on litter size, 50 animals were selected from the highest to the lowest litter size productivity during three seasons. PCR-SSCP analysis of the FSHR gene (250-bp) showed two various genotypes AA and with frequencies 0.64 and 0.36, respectively. The frequencies of the A and B alleles were 0.82 and 0.18, respectively. PCR fragment of FSHR gene (191-bp) was sequenced only in the high and low litter size productivity animals (GenBank accession numbers from MG973191 to MG973207, sequentially). The result indicated that 6SNPs (G/71, G/72, G/77, A/110, A/111, A/191) in high fertile animals, while, 10 SNPs (T/1, C/2, T/14, A/69, A/70, A/71, A/74, G/74, A/75, A/136) have found in low fertile animals. Statistically, AA and genotypes have no significant differences (p> 0.05) on litter size trait in Ossimi sheep. FSHR (exon 10) locus was moderate polymorphic (PIC= 0.25) and it can be used for high litter size productivity in Ossimi sheep as a marker-assisted selection (MAS).

The impact of FSH receptor polymorphism on time-to-pregnancy: a cross-sectional single-centre study

BackgroundSingle nucleotide polymorphism of the follicle-stimulating hormone (FSH) receptor (FSHR) is an important marker of ovarian function. However, its role in female fecundity remains debatable. The aim of the study to assess the relationship of FSHR polymorphism of Serine/Serine, Asparagine/Asparagine and Asparagine/Serine variants directly against the time-to-pregnancy (TTP) in women.MethodsData were collected from 291 consecutive selected post-partum Caucasians using this criterion: ethnicity, age between 21 and 34-year-old new mothers and, 0–3 days after delivery of newborns in the Klaipeda University Hospital, Lithuania. Questionnaires on factors associated with conception were given to patients, and blood samples were collected for genomic DNA extractions as well as for analysis of follicle-stimulating hormone receptor gene polymorphism. Odds ratios (OR) and 95% confidence intervals (CI) for time-to-pregnancy were estimated by multivariate logistic regression. Women with unplanned pregnancies and those who received assisted reproductive technologies were not included in the study.ResultsAfter adjustment for other possible factors, increased risk for time-to-pregnancy of 12 or more months was associated with: Serine/Serine polymorphism variant (OR = 1.38, 95% CI 1.56–2.71, p = 0.007), age of 30 or more years (OR = 1.95, 95% CI 1.25–2.71, p = 0.015), gynaecological diseases in the past (OR = 2.21, 95% CI 1.12–5.74, p = 0.027), prior contraception use (OR = 1.87, 95% CI 1.14–3.64, p = 0.016), and fertility problems in the past (OR = 1.57, 95% CI 1.16–4.76, p = 0.019).ConclusionThe results suggest a possible relationship of FSH receptor gene Serine/Serine variant for the lower possibility of conception during the first 12 months of planned conception.

Association of Thr307Ala and Asn680Ser of Follicle-Stimulating Hormone Receptor Gene Polymorphisms with Gonadotropin Administration during Controlled Ovarian Hyperstimulation

Objective: This study is to investigate the effect of different single-nucleotide polymorphisms of follicle-stimulating hormone receptor (FSHR) gene on gonadotropin (Gn) administration dosage during controlled ovarian hyperstimulation (COH) protocol of in vitro fertilization and embryo transfer. Methods: This retrospective study included 184 Chinese infertile women in Center for Reproduction and Genetics of Suzhou Municipal Hospital from June 2012 to 2014. All of the enrolled patients were homogeneous in some basal characteristics, and they all met the eligibility criteria. Blood tests were conducted on day 3 of menstrual cycle or the day of human chorionic gonadotropin administration for hormonal profile analysis and DNA extraction. DNA sequencing was performed for polymorphism analysis. The participants were classified into threonine (Thr)/Thr, Thr/alanine (Ala), and Ala/Ala groups according to genotype at position 307, and asparagine/asparagine (Asn/Asn), Asn/serine (Ser), and Ser/Ser groups according to genotype at position 680. Logistic regression and correlation analyses were performed to identify the effect of these two polymorphisms on Gn consumption. Results: The frequency of Thr307Ala and Asn680Ser distribution was consistent with Hardy–Weinberg equilibrium (P > 0.05). No significant difference was found in age, basal hormone levels for different genotype groups. Logistic regression analysis results revealed that patients with Ser680Ser genotype have a higher risk of requiring a high dose of Gn compared with patients with Asn680Asn genotype, while polymorphism of Thr307 Ala has no such effect. Conclusion: This study suggested that FSHR genotype Asn680Ser would be helpful in determining the dosage of Gn in COH; patients with Ser680Ser genotype may require higher dose of Gn.

The -29G/A FSH receptor gene polymorphism is associated with higher FSH and LH levels in normozoospermic men.

The functional role of the FSHR promoter -29G/A polymorphism (rs1394205) in men is not clear. Some studies failed to find a relationship between the FSHR -29G/A and follicle-stimulating hormone (FSH) levels and did not associate the SNP with male infertility. Only one study showed that the FSHR -29 SNP modulates serum FSH levels in Baltic young male cohort. Because the SNP -29G/A has to be shown to have a strong effect on in vitro transcription activity of the FSHR promoter and the activation of FSHR is necessary for a normal FSH function, this study was undertaken to assess whether the FSHR -29G/A SNP modulates the gonadal endocrine function in men. A total of 200 men with alteration of conventional sperm parameters or normozoospermia (according to the parameters WHO 2010), were genotyped by TaqMan Assay. Hormone levels were measured by immunoassay, and sperm analysis was performed according to the World Health Organization criteria. A significant gradient of increasing FSH levels across the FSHR -29G/A genotypes was observed (p<0.01). Among normozoospermic men (n=110), those with FSHR -29A-allele carriers (GA+AA and AA) had higher serum FSH (p<0.01) and LH levels (p<0.05) and higher body mass index (BMI) (p<0.01) compared to men with the GG genotype. The carrier status of rs1394205 genotypes did not affect the other endocrine parameters neither in men with altered sperm parameters nor in normozoospermic men. The FSHR -29G/A polymorphism modulates FSH and, for the first time, LH serum levels and BMI in normozoospermic men. These findings underline the importance to pay close attention to the studies of genetic variations associated with clinical-endocrine parameters.

The follicle-stimulating hormone receptor Asn680Ser polymorphism is associated with preterm birth in Hispanic women

Objective: Recently, a study based on the analysis of accelerated evolution of related genes at birth identified the follicle-stimulating hormone receptor (FSHR) as a possible candidate for the development of preterm delivery. Additionally, FSHR expression has been described in extragonadal tissue including the placenta. Therefore, the aim of the present study was to determine the association between the N680S polymorphism of the follicle-stimulating hormone receptor and preterm birth in a population of Hispanic women.Methods: Placenta samples were obtained from 64 women who had preterm births and 54 control cases. DNA was extracted and genotyped for the N680S FSHR gene polymorphism by polymerase chain reaction-restriction fragment length polymorphism. The χ2 test and t-test were used to calculate statistical significance.Results: Statistically significant differences in genotype frequencies for the N680S polymorphism were observed between preterm and term groups (p = .04). Based on the Akaike information criterion values, the dominant model showed that the NN genotype had a significantly increased risk of preterm birth compared with the SS + NS genotype (OR 2.52, 95% CI 1.20–5.33, p = .02).Conclusions: The results herein suggest that the FSHR polymorphism N680S is significantly associated with preterm birth in the Hispanic population.

Follicle-stimulating hormone receptor gene polymorphism in Albanian women

&lt;b&gt;Introduction&lt;/b&gt;: Several parameters have been postulated as predictors of ovarian response (inhibin B, 17-estradiol and anti-Müllerian hormone. Consequently, the variants of FSHR were explored and they may be involved in the role of FSH receptor in mediated signal transduction and with ovarian response in infertile women submitted to ovarian stimulation. The aim of the study was to investigate association of Asn680Ser FSHR polymorphism with the ovarian response in 104 women of Albanian ethnic population enrolled in ICSI program. &lt;br /&gt; &lt;b&gt;Material and methods&lt;/b&gt;: Analysis of the Asn680Ser polymorphism was performed using TaqMan® SNP Genotyping Assay. Clinical and endocrinologic parameters were analyzed based on the genotype, age, body mass index (BMI), oocyte yield, number of transferred embryos and pregnancy rate.&lt;br /&gt; &lt;b&gt;Results: &lt;/b&gt; The frequencies of genotypes were: Asn/Asn 22.1%, Asn/Ser 47.1%, and Ser/Ser 30.8%. Body mass index was significantly higher in the Ser/Ser as compared to the Asn/Ser (p = 0.0152) or the Asn/Asn group (p = 0.0014). Basal estradiol (bE2) levels showed statistically significant difference (0.0308) between the genotype variants. Correlation analysis showed statistically significant (p &lt; 0.0001) negative correlation of oocyte retrieval number in respect to age, bFSH (basal FSH) stimulation length and gonadotropin dose.&lt;br /&gt; &lt;b&gt;Conclusions&lt;/b&gt;: The results in the present study provide new addition to the understanding of the impact of FSHR genotype variants on controlled ovarian stimulation. FSH receptor polymorphism is associated with different ovarian response to controlled ovarian stimulation (COS), but is not an important factor in increasing the degree of pregnancy.

Male infertility and FSHR gene polymorphisms in IVF

Some studies suggest male infertility may be linked to single nucleotide polymorphisms (SNP) of gene of FSH receptor (FSHR). We analyzed two FSHR gene polymorphisms (FGP), G919A (Ala307Thr) and A2039G (Asn680Ser), for correlations with semen parameters of IVF patients.

Relationship Between Genotype Variants Follicle-stimulating Hormone Receptor Gene Polymorphisms (FSHR) and Morphology of Oocytes Prior to ICSI Procedures.

Introduction:This study investigated association of Asn680Ser FSHR polymorphism with the ovarian response in 104 women of Albanian ethnic population enrolled in ICSI program. The reason of infertility in all cases has been identified as male factor.Methods:Analysis of the Asn680Ser polymorphism was performed using TaqMan® SNP Genotyping Assay. Clinical and endocrinologic parameters were analyzed based on the genotype, age, BMI, oocyte yield, number of transferred embryos and pregnancy rate.Results:The frequencies of the Asn680 Ser genotype variants were as follows: Asn/Asn 22.1%, Asn/Ser 47.1%, and Ser/Ser 30.8%, respectively. BMI was significantly higher in the Ser/Ser group as compared to those from the Asn/Ser or the Asn/Asn group (p= 0.0010). The genotype variants Ser/Ser indicates a higher rate of oocyte retrieval (25.9%) in the immature form, metaphase I (MI) as opposed to the other two groups (Asn/Asn 23.7 % vs. Asn/Ser 21.9%), which was statistically significant (p = 0.3020).Conclusions:FSH receptor polymorphism is associated with different ovarian response to controlled ovarian stimulation (COS), but is not an important factor in increasing the degree of pregnancy. Polymorphisms of the FSH receptor is associated with normal morphology and genetic maturation (metaphase II) oocytes in dependence of genotypic variation polymorphisms.

Follicle-stimulating hormone receptor gene polymorphisms in women with endometriosis.

The purpose of this study was to evaluate the influence of the follicle-stimulating hormone (FSH) receptor poymorphisms Asn680Ser and Thr307Ala on endometriosis in Turkish women. Polymorphic analysis of the FSH receptor gene was performed in 100 patients with endometriosis and 100 controls. Genomic DNA was obtained from peripheral blood leukocytes and polymorphisms were investigated using restriction fragment length polymorphism analysis. There were no significant differences in genotype frequencies of FSH receptor gene between endometriosis patients and controls. When the patients were divided into two groups according to disease severity, we found that the patients with the SS (680 Ser/Ser) or AA (307 Ala/Ala) genotype were less likely to develop stage 3-4 endometriosis compared to the stage 1-2 endometriosis group (P = 0.004; OR: 0.177, 95% CI 0.055-0.568 and P = 0.040; OR: 0.240, 95% CI 0.061-0.938; respectively). The distributions of FSHR polymorphisms may not have an effect on endometriosis development but they are associated with the severity of the disease. The polymorphisms encoding SS at the position 680 and AA at the position 307 and the patients with the genotype that included alanine or serine were less likely to develop stage 3-4 endometriosis compared to the stage 1-2 endometriosis group.

The Ser680Asn polymorphism in the follicle-stimulating hormone receptor gene is associated with the ovarian response in controlled ovarian hyperstimulation.

Polymorphisms in the follicle-stimulating hormone receptor (FSHR) gene are reported to be associated with the ovarian response in controlled ovarian hyperstimulation (COH), although there remains some discordance between studies. Here, using the largest patient sample to date, we evaluated the association of the p.Ser680Asn (S(680)N) polymorphism in the FSHR gene with the outcome of COH. Cohort study. Medical academy and hospital. A total of 1250 infertile Chinese women undergoing IVF/ICIS-ET treatment were included. The association between an FSHR polymorphism (S(680)N) and the ovarian response was analysed. Genotyping was performed by utilizing direct sequencing and the Sequenom MassARRAY iPLEX platform. Follicular fluid oestradiol (E₂) and follicle-stimulating hormone (FSH) concentrations were determined using electrochemiluminesence immunoassays. The ovarian response parameters were analysed based on the FSHR genotypes. The odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated for the risk genotypes and alleles. There were linear correlations between the basal FSH level, exogenous gonadotropin consumption, and oocytes retrieved and the Ser680 alleles. Patients in the homozygous SS group demonstrated higher basal FSH levels, required more dosage of exogenous gonadotropin for ovarian stimulation, and had fewer numbers of oocytes retrieved compared with patients in the homozygous NN and heterozygous groups. Logistic regression analysis revealed that the OR of a poor ovarian response for the NS genotype was 1·79 (95% CI 1·28-2·61; P < 0·001), whereas that for the SS genotype was 2·25 (95% CI 1·40-3·58; P < 0·001) after adjusting for age, BMI and basal FSH level. The concentration of E2 in the follicular fluid was significantly higher in subjects with the NN genotype than the SS genotype (772 ± 545 ng/ml vs. 1299 ± 504 ng/ml). Follicle-stimulating hormone receptor gene polymorphism at position 680 is associated with different ovarian responses to controlled ovarian hyperstimulation.

Follicle-stimulating hormone receptor gene polymorphism in chronic anovulatory women, with or without polycystic ovary syndrome: a cross-sectional study.

BackgroundPolymorphisms at codons 307 and 680 are the most commonly encountered allelic variants of the follicle-stimulating hormone receptor (FSHR) gene. Studies in Caucasians suggest that certain FSHR variants are more common in women with polycystic ovary syndrome (PCOS) than normal women. The objective of this study was to determine the distribution of FSHR gene polymorphisms at codons 307 and 680 in Thai women with chronic anovulation, without (121 women) and with PCOS (133 women), using 132 known fertile women as controls.MethodsDNA samples from peripheral blood lymphocytes were extracted and analyzed by polymerase chain reaction-restriction fragment length polymorphism.ResultsThe prevalence of Threonine307Threonine (TT), Threonine307Alanine (TA), and Alanine307Alanine (AA) genotypes at codon 307 was 53.0% (95% CI = 44.2-61.7%), 42.4% (95% CI = 34–51.3%), and 4.5% (95% CI = 1.9-10.1%) in controls; 52.6% (95% CI = 43.8-61.3%), 39.8% (95% CI = 31.6-48.7%), and 7.5% (95% CI = 3.9-13.7%) in PCOS women; and 50.4% (95% CI = 42.8-61.2%), 45.4% (95% CI = 34.9-53.1%), and 4.5% (95% CI = 1.5-9.6%) in anovulatory women without PCOS, respectively. The prevalence of Asparagine680Asparagine (NN), Asparagine680Serine (NS), and Serine680Serine (SS) genotypes at codon 680 was 54.5% (95% CI = 45.7-63.2%), 40.9% (95% CI = 32.5-49.8%), and 4.5% (95% CI = 1.9-10.1%) in controls; 51.9% (95% CI = 43.1-60.6%), 44.4% (95% CI = 35.8-53.2%), and 3.8% (95% CI = 1.4-9.0%) in PCOS women; and 47.9% (95% CI = 40.4-58.8%), 47.1% (95% CI = 36.5-54.7%), and 5.0% (95% CI = 2–10.9%) in anovulatory women without PCOS, respectively. The prevalence of FSHR gene polymorphisms at both codons were not statistically different among the three groups.ConclusionsIn Thai women, there was no association between the FSHR gene polymorphism at codons 307 and 680 and chronic anovulation.

FSHR genotype affects estrogen levels but not pregnancy rates in Luxi cattle subjected to embryo transfer

Follicle-stimulating hormone receptor (FSHR), which mediates the functioning of FSH, plays a central role in reproduction. We investigated bovine FSHR gene polymorphisms and analyzed their relationships with pregnancy rates after embryo transfer and with hormone concentrations on the day of embryo transfer. One reported SNP of FSHR, G-278A, located in the 5'-upstream region, was analyzed and three genotypes (GG, GA and AA) were detected in 132 Luxi cattle recipients. Statistical analysis revealed that recipients with the GG genotype had significantly higher estrogen levels on the day of embryo transfer than did GA and AA genotypes. There were no significant differences in pregnancy rates among genotypes, after embryo transfer. We conclude that variation at these loci of the FSHR gene has no significant effect on pregnancy rates in Luxi cattle.