Estrogen Receptor Gene Polymorphisms Research Articles

The role of estrogen receptor gene polymorphisms in menopausal symptoms and estradiol levels in perimenopausal women – Findings from the Swiss Perimenopause Study

ObjectivesFluctuating estradiol (E2) levels seem to be associated with menopausal symptoms, though not all women suffer from these symptoms to the same extent despite experiencing these hormonal changes. This suggests underlying, interindividual mechanisms, such as single-nucleotide polymorphisms (SNPs) influencing estrogen receptors α and β, and the g-protein-coupled estrogen receptor (GPER). As research is scarce, we aimed to address this research gap by assessing genetic traits, E2 levels, and menopausal symptoms longitudinally. Study design129 perimenopausal women (aged 40–56 years) participated in the 13-month longitudinal Swiss Perimenopause Study. Main outcome measuresMenopausal symptoms were assessed fortnightly using the Menopause Rating Scale (MRS II). Salivary E2 levels were assessed 14 times over two non-consecutive months. Blood samples were collected using the dried blood spot (DBS) technique to analyze ESR1 rs2234693, ESR1 rs9340799, ESR2 rs1256049, ESR2 rs4906938, and GPER rs3808350. Group-based trajectory modeling was performed to identify interindividual trajectories of menopausal symptoms. Multinomial logistic regression models were employed to identify factors associated with these trajectories. ResultsFour distinct trajectory groups of menopausal symptoms were identified (increase, moderate, rebound, decrease). ER gene polymorphisms and E2 fluctuation were significantly associated with group membership. Furthermore, ER gene polymorphisms modulated the effect of E2 fluctuations on menopausal symptom trajectory. ConclusionsThis study illuminates the multifaceted factors contributing to the individuality of the perimenopausal experience. ER gene polymorphisms emerged as integral factors by modulating the effect of E2 fluctuations on menopausal symptom trajectory. This underscores the intricate interplay of genetic factors, E2 fluctuations, and menopausal symptoms during perimenopause.

Genetic Polymorphism of Estrogen Receptor Alpha Gene (ESRα) and Its Effect on Production and Biochemical Traits of White Quails

This study was conducted in the poultry field of Animal Production Department - College of Agriculture - University of Kirkuk for the period from 28/3/2022 to 15/1/2023, to determine the restriction fragment length polymorphism (RFLP) of alpha estrogen receptor gene (ESRα) and evaluation of some productive and biochemical traits of white Japanese quail, One-day-old quails were obtained from Animal Production Department - College of Agriculture, and they were reared for 35 days until reaching age of sexual maturity. Then they were randomly distributed to 30 families, with male and female for each family. The birds were fed on a diet with 20% crude protein and 2850 k.cal/kg metabolism energy of feed. At the end of the experiment, the female of each family was slaughtered and DNA was extracted from liver by using kit to determine the polymorphism of the length restriction fragment (RFLP) for estrogen receptor alpha gene (ESRα) and evaluation of some productive and biochemical traits by polymerase chain reaction (PCR) technology and the use of the restriction enzyme (EcoRI) and electrophoresis to determine the length of bundles of ESRα gene. The results of the study showed that the CC genotype resulting from the restriction fragment length polymorphism (RFLP) of estrogen receptor alpha (ESRα) gene had a significant effect on egg production of white Japanese quail compared with CT and TT genotypes, and CC and TT genotypes were superior to CT genotypes in estrogen level, while CC and CT genotypes were superior to the TT genotype in glucose level in blood serum of female white Japanese quail. The study recommended to selection CC and TT genotypes of estrogen receptor alpha (ESRα) gene because it is positively and significantly associated with egg production of white Japanese quail.

Erectile function and androgen and estrogen beta receptor gene polymorphisms in acromegalic men

PurposeSexual dysfunctions are often experienced by male patients with acromegaly, due to a combination of hypogonadism and other comorbidities, but are a scarcely investigated complication. Erectile dysfunction is also closely related to cardiovascular diseases through endothelial dysfunction. Therefore, this project aimed to assess the prevalence of erectile dysfunction in a population of acromegalic men and evaluate its association with cardio-metabolic disorders, also exploring associations with androgen and estrogen receptor gene polymorphisms.MethodsSexually active men aged 18–65 with previous diagnosis of acromegaly were recruited. Clinical and laboratory data were retrospectively collected. Each patient also provided a blood sample for AR and ERβ gene polymorphisms analyses and filled out the IIEF-15 questionnaire.ResultsTwenty men with previous diagnosis of acromegaly (mean age 48.4 ± 10.0 years) were recruited. 13/20 subjects (65%) had erectile dysfunction, but only four had a concurrent biochemical hypogonadism, with no significant correlation with IIEF-15 scores. Total testosterone negatively correlated with sexual intercourse satisfaction domain (ρ = − 0.595; p = 0.019) and general satisfaction domain (ρ = − 0.651; p = 0.009). IGF-1 levels negatively correlated with biochemical hypogonadism (ρ = − 0.585; p = 0.028). The number of CAG and CA repeats in AR and ERβ receptors genes was not significantly associated with IIEF-15 scores or with GH/IGF-1 levels, but a negative correlation between CA repeats and the presence of cardiomyopathy (ρ = − 0.846; p = 0.002) was present.ConclusionsMen with acromegaly have a high prevalence of erectile dysfunction, but it does not appear to be correlated with treatments, testosterone levels and AR/ER-beta signaling. Nonetheless, a shorter CA polymorphic trait (ERbeta) is associated with the presence of cardiomyopathy. If confirmed, these data may suggest an association between an incorrect hormonal balance and increased cardiovascular risk in acromegaly subjects.

Analysis of Genetic Studies in Association of a and b Estrogen Receptor Gene Polymorphisms Against Endometriosis

Endometriosis is a common cause of morbidity in women of unknown etiology. Several studies have shown endometriosis with a polygenic/multifactorial trait. To evaluate ? and ? estrogen receptor (ER) gene polymorphisms against endometriosis, this study was analyzed from an endometriosis outpatient clinic which compared 83 women with endometriosis and 76 women without endometriosis. The ER ? gene rs9340799 A/G and ER ? gene rs4986938 G/A polymorphism was identified by restriction fragment length polymorphism polymerase chain reaction. Genotype distribution and allele frequency of the +1730 G/A polymorphism in the ER ? gene rs9340799 A/G and ER ? gene rs4986938 G/A. The genetic model on the ER? rs2234693 SNP analysis that there is no significant difference in the four genetic models, but on the ER? rs498638, it appears that the genetic model dominant (GG vs (GA + AA) and co-dominant (GA vs GG + AA) showed significant differences with p less than 0.05, i.e. 0.013 and 0.06 respectively and with OR (95% CI) 0.350 and 3.258, respectively. For other genetic models, this SNP did not show significant differences. The data suggest that the ER ? gene rs4986938 G/A polymorphism can be associated with the risk of endometriosis development, regardless of the stage of the disease.

Vitamin D receptor and estrogen receptor gene polymorphisms in men with type 2 diabetes: Effects on Bone Metabolism.

There is an increased fracture risk in type 2 diabetes mellitus [DM] patients independent of bone mineral density [BMD], both in men and women. Estrogen receptor [ER]-alpha and vitamin D receptor [VDR] gene polymorphisms may predispose patients to increased osteoporosis and fracture risk. This study aims to analyze the relationship of the ER-alpha gene and VDR gene polymorphisms with indicators of bone turnover and BMD in male type 2 diabetic patients. Type 2 diabetic men diagnosed with diabetes for at least one year and healthy controls were included in this cross-sectional study. BMD was measured by dual X ray absorptiometry. Gene polymorphisms were evaluated with polymerase chain reaction-restriction length polymorphism. Serum iPTH, calcium, beta-CrossLaps (cTx), osteocalcin, and free testosterone levels were also evaluated. Participants were 141 type 2 diabetic men [55 ± 8 years] and 100 healthy controls [53 ± 7 years]. BMD measurements were not statistically different between the groups. While iPTH [p < 0.05] and serum calcium levels [p = 0.03] were higher in men with type 2 DM; beta-CrossLaps [p = 0.0001], osteocalcin [p = 0.005], and free testosterone [p = 0.04] were lower than controls. The differences in terms of the frequencies of VDR Apa, Taq, Bsm, Fok and ER-alpha polymorphisms were not statistically significant between the groups. No relationship was observed between polymorphisms and BMD in both groups. VDR and ER-alpha gene polymorphisms seem to have no effect on BMD and bone turnover in men with DM.

Association of Polymorphisms in Estrogen Receptor Genes (ESR1 and ESR2) with Osteoporosis and Fracture-Involvement of Comorbidities and Epistasis.

Single-nucleotide polymorphisms (SNPs) in the ESR1/ESR2 genes play a role in osteoporosis (OP). Our objective was to determine associations of polymorphisms in ESR genes with OP and fracture, SNP-SNP interactions, and involvement of comorbidities. We analyzed 170 Mexican osteoporotic women (FNOP), 173 with hip fracture (HFx), and 210 controls. The SNPs, ESR1 rs2234693CC, rs851982CC and rs1999805AA, were associated with reduced OP risk (odds ratios [ORs] = 0.35, 0.40 and 0.32, respectively; p < 0.05); rs2234693CC was associated with reduced fracture risk (OR = 0.24; p < 0.05). The obese/overweight carriers of rs9340799GG had a lower OP (OR = 0.15, p = 0.016) and fracture (OR = 0.12, p = 0.0057) risk. The rs9479055AA and rs3020404AA hypertensive carriers had a higher OP risk (OR = 5.96, p = 0.032; and OR = 5.29, p = 0.02, respectively). In addition, rs3020404AA had a higher risk of fracture (OR = 4.90, p = 0.045). The rs2228480GG hypertensive carriers had a higher risk of fracture (OR = 6.22, p = 0.0038). We found a synergic relation between the ESR1 rs3020331 and rs1999805 in femoral neck OP and HFx. The rs2234693 (PvuII) and rs9340799 (XbaI) polymorphisms are associated with a high risk forming a haplotype. The epistasis analysis suggests the contribution of both genes (ESR1/ESR2) to the risk of OP and fracture. Epistasis and involvement of obesity and hypertension lead to a significant modification of the risk.

Estrogen Receptor Gene Polymorphism as a Possible Genetic Risk Factor for Treatment Response in ER-Positive Breast Cancer Patients.

Estrogen receptor-α (ESR1) single nucleotide polymorphisms (SNPs) have been related to breast cancer (BC) susceptibility. In this retrospective study we investigated ESR1 SNPs in association with survival and treatment response in BC patients. Seven ESR1 SNPs were genotyped using TaqMan probe assay in 100 formalin-fixed paraffin embedded blocks of Egyptian ER+BC patients. Log-binomial regression was used to assess the association of 5 ESR1 SNPs with relative risk of non-response to adjuvant-hormonal treatment. We compared the performance of five machine learning classification models for prediction of treatment response. Predictive models were developed using rs1801132, rs2228480, and rs9322354 that were significantly associated with increased risk for non-response along with the relevant clinical features. Survival analysis was performed to detect prognostic significance of ESR1 SNPs in ESR+BC patients. rs1801132 (C), rs2228480 (A), and rs9322354 (G) minor alleles significantly increased the risk of non-response to tamoxifen by more than 81, 84, and 117%, respectively, in ER+BC patients on anthracycline/anthracycline-taxanes-based chemotherapy. Multivariate Cox regression survival analysis revealed that rs1801132 (C) and large tumor size were independent predictors for poor survival outcome in ER+BC. The best response predictive model was a combination random forest, K-nearest neighbor, and decision tree having an area under the curve of 0.94 and an accuracy of 90.8%. Our proposed predictive model based on ESR1 rs1801132, rs2228480, and rs9322354 SNPs represents a promising genetic risk stratification for selection patients who could benefit from tamoxifen therapy in such a way that might facilitate personalized medicine required to improve ER+BC patients' outcome.

Sex hormone-related polymorphisms in endometriosis and migraine: A narrative review

Some evidence indicates endometriosis and migraine have a common genetic predisposition in sex-hormone genes, which could have important implications for the treatment of these two heterogenous conditions. To date, the genes responsibility remains unknown. Based on the biological hypothesis that polymorphisms of genes involved in sex-hormone pathways may influence estrogen levels and phenotypes of both disorders, we did a literature search for candidate sex-hormone genes and genes involved in the metabolism of estradiol. The aim was to review the evidence for shared sex-hormone-related polymorphisms between endometriosis and migraine and provide an exhaustive overview of the current literature. We included case-control studies investigating associations between candidate sex-hormone-related genes and the disorders endometriosis and migraine, respectively. Results showed three overlapping sex-hormone-associated polymorphisms in estrogen receptor genes that are associated with both conditions. To confirm possible associations with other sex-hormone genes, larger studies are needed.

Evaluation of Estrogen Receptor-α Gene (T/C) Polymorphism in Patients With Leiomyoma Compared to Healthy Individuals

Background: Leiomyoma as one of the most prevalent tumors in women occurs at the same time of reproductive age and its causes are still unknown. Hormone therapy is one of the common treatments for this disease. Estrogen hormone through its receptor, which is called ER α, plays an effective role in the treatment of leiomyoma. Single nucleotide polymorphisms (SNPs) are effective in the diagnosis, treatment, and prognosis of many diseases and tumors. In this regard, the current study investigated the estrogen receptor gene polymorphisms of ER α in women with leiomyoma in Sistan and Baluchestan province, Zahedan and then compared them with healthy individuals. Materials and Methods: Overall, 150 women with leiomyoma were sampled and their DNA was isolated as well. In addition, 150 samples were taken from healthy individuals as the control group. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and PvuII were used to study gene polymorphisms. Results: The results showed a significant relationship between ER α gene polymorphism and leiomyoma. Conclusion: Accordingly, this gene polymorphism can be considered as a marker for prognosis in leiomyoma in the population of Iranian women in Zahedan, Sistan and Baluchestan province.

Treatment algorithm for uterine leiomyoma for women of reproductive age taking into account genetic factors

The objective: to determine the association of estrogen receptor gene polymorphisms ESR1 and progesterone PGR with the development of uterine leiomyoma (UL) and to develop a patient management algorithm based on the results of ultrasound and genetic studiesMaterials and methods. Comprehensive examination was made for 90 women with intramural myoma in the age from 26 to 45 years, which additionally included determination of the presence of the Progins polymorphism of the PGR gene and polymorphic variants A351G and T397C of the ESR1 gene. Further treatment depended on the polymorphisms of the studied genes, the number and size of myomatous nodules (MN) and their position in relation to the uterine cavity.Results. Minor alleles for the estrogen receptor gene ESR1 T397C were detected in 87.2% of women with MN over 40 mm in diameter, while they were 54.2% in women with MN less than 20 mm (p&lt;0.05). The minor alleles of ESR1 gene locus A351G were also significantly more common in women with large MN compared to LU less than 20 mm – 69.2% versus 37.5% (p&lt;0.05). The polymorphism of the progesterone receptor regulator gene PGR Progins was found in 33.3% of patients with small size LU and from 7.7% to 18.5% in women with large LU and MN larger than 20 mm in diameter at ultrasound.Treatment was started with hormonal therapy and in the presence of the T1/T1 genotype of the PGR Progins gene and the absence of endometrial hyperplasia according to histological examination, was prescribed hormonal therapy with mifepristone 50 mg daily for 3 months, followed by monitoring of the course of the disease.GnRH agonists were prescribed as preoperative preparation in the case of detection of PGR Progins gene polymorphisms (T1/T2 or T2/T2 genotypes), endometrial hyperplasia and MN over 40 mm. In the case of small nodules that do not deform the uterine cavity and an ESR1 gene reference genotype, contraceptive OCs were recommended for six months or more to stabilise LU growth. MN over 30 mm distorting the uterine cavity and the presence of ESR1 minor alleles of the oestrogen receptor gene were the grounds for surgical treatment of such an LU.As a result of this approach, the incidence of pain syndrome decreased by almost 4.7 times, menstrual disorders in the form of hyperpolymenorrhoea and AUB by 8 times. An improvement in general well-being was subjectively reported by 64.4% of the patients, «without change» – by 24.4% of the patients. Only 11.1% of women reported a worsening of subjective sensations, which was associated with the side effects of therapy. The size of the lymph nodes decreased considerably in 44.4% of the patients, a partial effect was noticed by 26.7% of the women. There was observed no growth of the nodes in the patients during treatment or after it. A pregnancy occurred in 68.5% of the patients and ended in childbirth in 86.5% of cases.Conclusion. Consideration of the patient’s genetic status contributes to the improvement of LU treatment outcomes. The most effective is to prescript mifepristone in patients with MN under 40 mm, including multiple ones, when the operation is associated with a high risk. In the case of larger mets (over 50 mm), hormonal therapy is less effective and can be used for preoperative preparation. This approach allows to control symptoms and reduce the size of the node in 72.2% of patients and in 68.5% of cases the pregnancy can be achieved.

Allelic variability of estrogen receptor (ESR) gene and its effect on litter traits of Doom pigs.

The present study was conducted to identify the polymorphism of estrogen receptor (ESR) gene and its biological association with litter traits (litter size at birth, litter size at weaning, litter weight at birth and litter weight at weaning) of Doom pigs native to Assam. A total of 50 adult pigs (12 males and 38 females) chosen randomly from three different herds (Herd I, Herd II, and Herd III) were utilized in the present study. Detection of polymorphism of ESR gene was done by means of PCR-RFLP method. The amplified PCR product was digested with Pvu II restriction enzyme. PCR-RFLP analysis of ESR gene revealed polymorphic banding pattern. Two genotypes viz. AA and AB were identified. AA genotype yielded one fragment (120 bp) and AB genotype yielded three fragments (120, 65, and 55 bp). BB genotype was not found in the population under study. The frequencies of A and B alleles were found to be 0.650 and 0.350, respectively, and the genotypic frequencies of ESR gene were found to be 0.300 and 0.700 for AA and AB genotypes, respectively. There was no significant (P > 0.05) effect of ESR genotype on litter traits and the population under study was not in Hardy-Weinberg Equilibrium for ESR gene. Clustal W Multiple alignment of partial sequence of ESR gene revealed single nucleotide changes at 33, 65, 70, 83, and 92nd nucleotide positions. The presence of Pvu II polymorphism and identification of single nucleotide variation of ESR gene opens interesting prospects for improvement oflitter traits in Doom pig through selective breeding program, especially based on marker-assisted selection.

To evaluate the effect of Estrogen receptor gene polymorphisms are associated with Lipid level among post-menopausal women

To evaluate the effect of Estrogen receptor gene polymorphisms are associated with Lipid level among post-menopausal women

Polymorphism of PvuII, Xba1, and SNP 12 Estrogen Receptor 1 (ESR1) in Hipospadias Patients at Tertiary Hospital Center.

IntroductionThe prevalence of hypospadias ranges between 1: 250 to 300 per live birth. Estrogen exposure has been associated with the increasing incidence of hypospadias in humans and a significant relationship between Estrogen Receptor 1 (ESR1) polymorphisms and hypospadias was determined from the previous study. This study aims to determine the proportion of ESR1 polymorphism.MethodsThis was a descriptive study aimed to find the incidence of ESR1 gene polymorphism in hypospadias patients visiting the Urology Outpatient Unit of the Hasan Sadikin Bandung Hospital who will undergo hypospadias surgery. Deoxyribonucleic acid (DNA) was performed using foreskin of hypospadias patient during the surgery then being extracted and will be analyzed using polymerase chain reaction (PCR) sequencing.ResultsThirty eight samples of hypospadias were identified, 5 samples were unable to sequence and 33 samples were successfully sequenced using the PCR method. The Pvull ESR1 gene was dominated by the T allele which is a wild-type allele and the genotype containing the T allele, namely TT + TC (57,2%). Normal genotype (TT) were more frequent in distal hypospadias, and Heterozygous polymorphisms (TC) was higher in proximal hypospadias. The ESR1 Xba1 gene polymorphism was dominated by the A allele which is a wild-type allele and the AA + AG genotype (76,1%). Normal genotype (AA) was more frequent in distal hypospadias, and both heterozygous hypospadias (AG) and homozygous hypospadias (GG) were found only in proximal hypospadias. The ESR1 SNP 12 gene polymorphisms were found in the combination of genotypes that played a role, namely GA + AA (81%) and the G allele which is a wild-type allele. Heterozygous polymorphisms (GA) was the most finding genotype and more frequent in proximal hypospadias.ConclusionESR1 gene polymorphisms (PvuII, XbaI, and SNP 12) were found in hypospadias patients. ESR1 polymorphisms may correlate with the severity of hypospadias. Further research with a larger sample and better hypospadias grouping is needed to confirm.

Association analysis of ESR gene polymorphism and carcass traits in egg quails (Coturnix coturnix)

The polymorphism of estrogen receptor (ESR) gene was detected by PCR-RFLP in China yellow, Korean and Beijing white quails and the association between ESR gene polymorphism and carcass traits of egg quails was analyzed. The results showed that there were three genotypes including CC, CT and TT detected in exon 1 and exon 8 of ESR gene in egg quails. The frequencies of CC genotype in exon 1 of ESR gene were the highest in China yellow, Beijing white and Korean quail (0.515, 0.614, 0.723). The highest frequencies of TT genotype in exon 8 of ESR gene were detected in Beijing white and Korean quails (0.618 and 0.540), while the highest frequency of CT genotype was detected in China yellow quail (0.476). As demonstrated in this study, there were significant correlations between exon 1 of ESR gene and body weight, carcass weight, breast muscle weight, heart weight and percentage of leg muscles in egg quails (P&lt;0.05).

ESR1 gene polymorphism (rs827421) as a potential genetic marker for constitutional delay of growth and puberty in Egyptian adolescents

Constitutional delay of growth and puberty (CDGP) is a variant of normal pubertal timing and progress. It is the most common form of delayed puberty in both genders. The genetic director of CDGP is ill-understood despite the positive family history result noted in those patients. The current study aimed at assessing the role of estrogen receptor 1 (ESR1) gene variant (rs827421) in Egyptian adolescents with CDGP. A cross-sectional study with follow-up part was carried out on 6760 children aged 4 to15 years. The study focused generally on children aged 13–15 years in order to evaluate the prevalence of delayed puberty in relation to all ages in general and to their peers in specific. Assessment of serum TSH, FSH, and LH was conducted on all participants, along with the measurement of serum-free testosterone for males and estradiol for females. Genotyping of ESR1 (rs827421) was done to all subjects through the use of TaqMan discrimination assay by real-time PCR. ESR1 (rs827421) GG genotype and G allele were significantly dominant among CDGP adolescents in comparison with controls (OR = 25.67 and 6.90). As regards follow-up of testicular size, AA genotype was significantly associated with increased size in the right and left testis compared to other genotypes (P = 0.021 and 0.006, respectively). Moreover, AA genotype showed significantly higher Tanner stage in both males and females in comparison with other genotypes. Serum estradiol level was significantly higher in AA genotype group than other genotypes groups. ESR1 gene polymorphism can be considered a potential genetic marker for CDGP in both sexes in a sample of Egyptian adolescents.

Correlation of sexual dysfunction with sex hormone and estrogen receptor gene polymorphism in Chinese Han women with epilepsy

ObjectiveWomen with epilepsy (WWE) have a high risk of sexual dysfunction (SD). We aimed to investigate the incidence of SD, the correlation between SD, sex hormone and estrogen receptor (ER) gene polymorphism in Chinese Han WWE. MethodsThis cross-sectional study examined 112 married WWE in the Affiliated Hospital of Yangzhou University who were taking antiepileptic drugs (AEDs) for ≥1 year, and 120 healthy controls without epilepsy, all of Chinese Han nationality. The age, menstruation, fertility of all the subjects and disease details of WWE were recorded. The Chinese version of female sexual function index (FSFI) was used to investigate the sexual function of the subjects. The chemiluminescence method was used for the detection of sex hormones, while polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine the ER gene polymorphism. The differences of the sexual function, sex hormone, ER genotype, and allele frequency were compared between the two groups. The correlation between SD, sex hormone and ER gene polymorphism was also analyzed. Results(1) A high rate (70.5%) of SD was detected in WWE. (2) The serum prolactin (PRL) level (P = 0.039) and the ratio of estradiol to progesterone (E2/P) (P＜0.001) in the WWE group were significantly higher than those in the control group. The allele frequencies of ERα-PvuII C (P = 0.001) and ERβ-AluI A (P = 0.001) in the WWE group were significantly higher than those in the control group. (3) Binary logistic regression analysis showed that serum testosterone level [odds ratio (OR) = 0.412, 95 % confidence interval (CI): 0.201–0.842, P = 0.015], and PvuII CC genotype [odds ratio (OR) = 6.074, 95 % confidence interval (CI): 1.257–29.352, P = 0.025] were independently correlated with SD. ConclusionThe incidence of SD in Chinese Han WWE is high. High serum testosterone levels may exert a protective effect on sexual function. ERα-PvuII polymorphism is related to the susceptibility of SD, and PvuII CC genotype may be the risk genotype of SD.

The Association Between Genetic Polymorphisms in Estrogen Receptor Genes and the Risk of Ocular Disease: A Meta-Analysis

Objectives:To evaluate the association between estrogen receptor (ER) genes polymorphisms and the risk of ocular disease.Materials and Methods:A meta-analysis was performed of all available studies that investigated the association between ER gene polymorphisms and the risk of ocular disease.Results:Studies that were selected based on inclusion criteria reported 5 and 4 single-nucleotide polymorphisms (SNPs) identified in the ESR1 (ERα) (rs2234093, rs12154178, rs1884054, rs1801132, and rs9340799) and ESR2 (ERβ) (rs1268656, rs7159462, rs1256031, and rs4986938) genes, respectively. The pooled result showed a significant association between ESR2 rs1256031 gene polymorphism and ocular disease (odds ratio: 0.55, 95% confidence interval: 0.41-0.74, p<0.0001).Conclusion:The recessive genotype of ESR2 rs1256031 gene polymorphism had a protective effect against ocular disease, which supports the hypothesis that the estrogen-signaling pathway through ERβ plays a pivotal role in the pathogenesis of ophthalmic disorders.

Вовлеченность полиморфизма генов рецепторов эстрогенов и прогестерона в развитие миомы матки

Вовлеченность полиморфизма генов рецепторов эстрогенов и прогестерона в развитие миомы матки

Identification of California condor (Gymnogyps californianus) estrogen receptor variants and their activation by xenoestrogens

California condors released in costal sites are exposed to high levels of xenoestrogens, particularly p,p′-DDE, through scavenging of marine mammal carcasses. As a result, coastal condors carry a higher contaminant loads and experience eggshell thinning when compared to their inland counterparts. Given that condor estrogen receptors (Esrs) are activated by physiologically relevant levels of xenoestrogens, differences in vulnerability to endocrine disruption may exist depending on which Esr variant(s) an individual condor possesses. This work aims to characterize genetic polymorphisms in estrogen receptor genes (ESRs) in California condors; one identified for condor estrogen receptor 1 (ESR1) (N161S, E162D) and one in the ESR2 (T114M) gene. Each variant was confirmed in individual founder birds by direct PCR sequencing as well as in first generation offspring to understand the introduction of the alleles into the pedigree (6 birds for ESR1 and 5 birds for ESR2). Site-directed mutagenesis was performed on wild type receptors to produce each of the full-length ESR variants and activation of Esr1 and Esr2 variant and wild type receptors by xenoestrogens was compared. Maximal activation of the variant form of Esr1 was significantly higher (p < 0.05) in response to ethinyl estradiol (EE2), o,p′-DDE, p,p′-DDE, p,p′-DDT and p,p′-DDD compared to wild type Esr1. For Esr2 the wild type maximal activation was higher in response to o,p′-DDE, p,p′-DDE, o,p′-DDT, and p,p′-DDT. Although significant differences in activation of condor Esr variants by xenoestrogens occurred at high (micromolar) concentrations, they correspond to circulating concentrations previously reported in coastal birds. Release and relocation of California condors to the coast is a promising avenue for recovery, however, reproductive problems associated with xenoestrogen exposure pose a sub-lethal threat to long-term success. Based on above findings, future release decisions could be informed by ESR form(s) individual birds possess to reduce deleterious effects of xenoestrogen exposure and ultimately improve reproductive success in wild populations.

Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa.

Background Anorexia nervosa (AN) is a serious eating disorder that is associated with decreased bone mineral density (BMD) and greater lifetime risk for fractures. The aim of this study was to determine the correlation between BMD and genetic polymorphisms in AN. Methods This case-control study analyzed vitamin D receptor (VDR) (VDRBsml, VDRFokl) and estrogen receptor (ESR) (ESR1Xbal, ESR1Pvull) polymorphisms in 45 adolescents diagnosed with AN and 46 age-matched healthy controls. BMD values of the AN group were classified as low or normal, and polymorphisms were compared between cases and controls. The effects of body mass index (BMI), duration of disease and amenorrhea on BMD were also evaluated. Results In girls with AN, a positive effect of the bb genotype of VDRBsmI polymorphism on femur Z-scores (p = 0.103) and of the Ff genotype of VDRFokI polymorphism on vertebra Z-scores (p = 0.097) was observed. In boys with AN, a positive effect of the Ff genotype of VDRFokI polymorphism on vertebra BMD (g/cm2) was detected (p = 0.061). No association was detected between ESR polymorphisms. An inverse relationship was observed between BMD and duration of illness and amenorrhea. A direct relationship was detected between BMD and BMI. Conclusions Specific VDR gene polymorphism genotypes may have positive effects on BMD in patients with AN. Additionally, the lack of association between ESR gene polymorphisms on BMD could be attributed to the low estrogen status of the patient.