pubmed > ESR1 > rs9340799

ESR1 gene variants affect FSHR-depended risk of fibrocystic mastopathy in infertile women.
The infertile women have an increased risk of developing benign and malignant tumors, in particular, breast cancer. Most studies have examined the role of gene variants in the risk of developing breast cancer, but there is little evidence of genetic risk factors for benign tumors. To assess the combined genetic risk of developing mastopathy in women with FSHR (rs6165, rs6166) and ESR1 (rs9340799, rs2234693) gene variants. The study included 87 infertile women (45 with concomitant fibrocystic mastopathy and 42 without mastopathy). For rs9340799 and rs2234693 variants of the ESR1 gene, we did not find any significant differences in the distribution of genotypes in infertile women with or without mastopathy. In patients with mastopathy, there was a reliable increase in the frequency of 307Ala/Ala and 680Ser/Ser genotypes of FSHR gene (χ Our study did not find an association of ESR1 gene variants with the risk of developing of mastopathy in infertile women although heterozygous variants of the ESR1 gene enhanced the "protective" effect of FSHR gene variants and reduced the risk of mastopathy.
Publication Date: 2021-10-01
Journal: Experimental oncology

The rs9340799 polymorphism of the estrogen receptor alpha (ESR1) gene and its association with breast cancer susceptibility.
The ESR1 rs9340799 polymorphism has been frequently investigated with regard to its association with breast cancer (BC) susceptibility, but the findings have been inconclusive. In this work, we aimed to address the inconsistencies in study findings by performing a systematic review and meta-analysis. Eligible studies were identified from the Web of Science, PubMed, Scopus, China National Knowledge Infrastructure, VIP and Wanfang databases based on the predefined inclusion and exclusion criteria. The pooled odds ratio (OR) was then calculated under five genetic models: homozygous (GG vs. AA), heterozygous (AG vs. AA), dominant (AG + GG vs. AA), recessive (GG vs. AA + AG) and allele (G vs. A). Combined results from 23 studies involving 34,721 subjects indicated a lack of significant association between the polymorphism and BC susceptibility (homozygous model, OR = 1.045, 95% CI 0.887-1.231, P = 0.601; heterozygous model, OR = 0.941, 95% CI 0.861-1.030, P = 0.186; dominant model, OR = 0.957, 95% CI 0.875-1.045, P = 0.327; recessive model, OR = 1.053, 95% CI 0.908-1.222, P = 0.495; allele model, OR = 0.987, 95% CI 0.919-1.059, P = 0.709). Subgroup analyses by ethnicity, menopausal status and study quality also revealed no statistically significant association (P > 0.05). In conclusion, our results showed that the ESR1 rs9340799 polymorphism was not associated with BC susceptibility, suggesting its limited potential as a genetic marker for BC.
Publication Date: 2021-09-22
Journal: Scientific reports

The correlation of estrogen receptor 1 and progesterone receptor genes polymorphisms with recurrent pregnancy loss in a cohort of Egyptian women.
Recurrent pregnancy loss (RPL) represents one of the pregnancy complications affecting 1-3% of women. Sex hormones, progesterone and estrogen play a critical role in the maintenance of pregnancy; they are mediated by estrogen receptor 1 (ESR1) and progesterone receptor (PR) genes respectively. Polymorphisms of (ESR1) and (PR) genes are linked to RPL. We aimed to explore the association of single nucleotide polymorphisms (SNPs) of (ESR1) gene and (PR) gene with RPL in a cohort of Egyptian population (50 infertile Egyptian women who experienced RPL and 50 healthy women), using polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) of (ESR1) gene and DNA sequencing of exons 1 and 5 of (PR) gene. Genotyping of ESR1 gene SNP's: (rs2234693) and (rs9340799) revealed higher significance in cases compared to controls of p value (p = 0.006 and p = 0.001) respectively. However, the frequencies of the two variants in (PG) gene; S344T (rs3740753) (p = 0.0001) and H770H (rs1042839) (p = 0.001) were significantly higher in women compared to the healthy control women. New polymorphism P352Q was observed in 2% of cases (p = 0.0001). There was a significant association of SNP's of ESR1 and PR genes with recurrent pregnancy loss RPL. Further demographics studies should be carried on a larger number of women at risk of recurrent implantation to elucidate this SNP's association and its role in RPL women.
Publication Date: 2021-06-02
Journal: Molecular biology reports

Estrogen Receptor 1 Gene rs22346939 and rs9340799 Variants are Associated with Major Depressive Disorder and its Clinical Features.
Major Depressive Disorder (MDD) is a major health problem worldwide. Estrogen interacts with the central nervous system and has been shown to affect anxiety and depressive behavior. Estrogen mediates its effects by connecting its receptors, estrogen receptors 1 and 2. The purpose of this case-control study was to clarify the association between MDD risk and estrogen receptor 1 (ESR1) gene variants. This study included 245 individuals (125 MDD patients and 120 healthy controls). Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) technics were used for genotypingESR1XbaII (rs9340799) and PvuII (rs22346939) variants. There were statistically significant differences between the groups in terms of genotype frequencies of the ESR1PvuII (-397 T > C) variant (p = 0.049) but not for the XbaII (-351 A > G) variant (p > 0.05). However, a correlation was observed between MDD and ESR1XbaII variant after male participants were excluded (p = 0.028). Also, the high pain score of MDD patients was associated with the ESR1PvuII variant, especially in female patients (p = 0.021). According to the results of combined genotype analysis, AA-TC combined genotype was correlated with a decreased risk in patients with MDD compared to controls (p = 0.016), while the combined genotype of GGCC was associated with increased risk in the patients with MDD compared to controls (p = 0.042). The two ESR1 variants were associated with MDD risk and its features in both individual and combined forms.
Publication Date: 2021-06-02
Journal: Current neurovascular research

Assessment of Correlation between Craniofacial Proportions and Genetic Indicators.
To assess correlation among craniofacial proportions and genetic indicators using estrogen receptors (ESR1 and ESR2). A total of 128 patients undergoing orthodontic treatment with age range 12-18 years of both genders were included. Lateral cephalogram of all subjects were taken. Vertical and sagittal parameters were studied on these cephalogram. Saliva was used for DNA extraction. Real-time polymerase chain reaction was performed for assessment of genetic indicators in ESR1 (rs9340799 and rs2234693) and in ESR2 (rs4986938 and rs1256049). The mean SN cranial base was 68.4 mm, ANB (sagittal jaw relationship) was 2.8°, Ptm-A maxillary length was 46.2 mm, Go-Pg (mandibular body length) was 68.2 mm, Co-Gn (total mandibular length) was 112.8 mm, lower anterior facial height (ANS-Me) was 58.4 mm, N-Me (total anterior facial height) was 108.4 mm, lower posterior facial height (Co-Go) was 58.7 mm, and S-Go (total posterior facial height) was 72.4 mm. It was found that rs4986938 in ESR2 was linked with S-N dimension, with patients having CC genotype possessing negative correlation values ( Evaluation of ESR1 and ESR2 may show role of genetic markers in disparity of craniofacial dimensions in individuals. This study provides an outlay and supports the concept of possible correlation between genetic markers and craniofacial measurements.
Publication Date: 2021-02-12
Journal: The journal of contemporary dental practice

Calcium and Phosphorus Levels in Saliva are Influenced by Genetic Polymorphisms in Estrogen Receptor Alpha and Microrna17.
Homeostasis between salivary calcium and phosphorus is important for maintaining oral health. The aim of this study was to evaluate if polymorphisms in ESR1 (Estrogen Receptor Alpha), ESR2 (Estrogen Receptor Beta) and miRNA17 (microRNA17) are associated with calcium and phosphorus levels in saliva. Saliva from 276 12-year-old children were collected by masticatory stimulation and calcium and phosphorus levels were determined by Mass Spectrometry. Genomic DNA was extracted from remaining saliva and genetic polymorphisms in ESR1 (rs12154178, rs1884051, rs9340799 and rs2234693), in ESR2 (rs4986938 and rs1256049) and in miRNA17 (rs4284505) were genotyped using TaqMan chemistry and a real-time PCR equipment. Statistical differences in genotype and allele distributions between 'low' and 'high' calcium and phosphorus levels were determined using chi-square or Fisher´s exact tests. The analysis was also adjusted by sex (alpha of 5%). ESR1 rs9340799 had the less common genotype associated with higher calcium levels (p=0.03). The less common allele of ESR1 rs1884051 was associated with lower phosphorus levels (p=0.005) and there was an excess of heterozygotes for miRNA17 rs4284505 among individuals with lower calcium levels (p=0.002), both adjusted by sex. This study provides evidence that genetic polymorphisms in ESR1 and miRNA17 are involved in determining salivary calcium and phosphorus levels.
Publication Date: 2020-11-05
Journal: Brazilian dental journal

Functionally significant polymorphisms of ESR1and PGR and risk of intrauterine growth restriction in population of Central Russia.
This study aimed to investigate the role ofESR1 and PGR gene polymorphisms in development of intrauterine growth restriction (IUGR) among Russian women in Central Russia. This case-control study recruited a total of 520 women in the third trimester of pregnancy, including 196 IUGR patients and 324 controls. The participants were unrelated women of self-reported Russian ethnicity. Participants were genotyped at 4 functionally significant polymorphisms of theESR1 (rs2234693, rs9340799) and the PGR (rs484389, rs1042838) genes. The association analysis was performed using logistic regression. Two polymorphisms, which were associated with IUGR, and 26 polymorphisms linked to them (r Haplotype TG of loci rs2234693-rs9340799ESR1 (OR = 1.94, р Haplotype TG defined by polymorphisms rs2234693-rs9340799 of theESR1 gene is associated with the development of IUGR in Russian women from Central Russia.
Publication Date: 2020-08-11
Journal: European journal of obstetrics, gynecology, and reproductive biology

Association of ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with Coronary Artery Disease (CAD).
Coronary artery disease (CAD) is a complex disease resulting from the cumulative and interactive effects of large number of genes along with environmental exposure. Therefore, the present study was envisaged as an effort to study the association of candidate genes ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with the risk of CAD, targeting the populations of Jammu (JandK). A total of 400 confirmed CAD patients and 400 healthy controls were enrolled for the present study. Genotyping was done by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP). ESR1 gene (rs9340799) polymorphism was found to be associated with CAD in all the genetic models. The haplotype analysis of ESR1 (rs2234693 and rs9340799) gene revealed that C-G haplotype was conferring approximately 5-fold risk and T-A haplotype was adding 1.4-fold risk towards the disease. 'T' allele of MTHFR rs1801133 SNP was observed to be responsible for development of CAD in our study population (p < 0.0001). In case of MTHFR (rs1801133 and rs2274976) gene, the haplotype T-G was observed to confer 4.7-fold risk towards CAD whereas haplotype C-G provided nearly a 1.7 fold protection towards development of CAD. For MS gene, rs185087 was also found to be associated with CAD in a co-dominant (p = 0.003 and p = 0.03), dominant (p = 0.001) and allelic models (p = 0.001). The gene-gene interaction revealed strong epistasis between single nucleotide polymorphisms (SNPs), ESR1 rs9340799 and MTHFR rs2274976. Furthermore, the dendrogram for gene-environment dataset indicated moderately synergistic interaction between CETP rs708272 and physical inactivity. In the study under reference, a significant association of ESR1-XbaI (rs9340799), MTHFR C677T (rs1801133) and MS A2756G (rs185087) gene polymorphisms with the susceptibility of CAD in the population of Jammu region (JandK) has been observed.
Publication Date: 2020-07-20
Journal: BMC cardiovascular disorders

Genetic and clinical predictors of arthralgia during letrozole or anastrozole therapy in breast cancer patients.
Female patients with breast cancer frequently develop arthralgia when treated with aromatase inhibitors (AI). Although the mechanism of AI-induced arthralgia is unknown, potential biomarkers have been identified. The purpose of this study was to investigate the clinical and genetic predictors of AI-induced arthralgia in a prospective cohort of patients with estrogen receptor-positive breast cancer. One hundred and ninety-six patients were enrolled at initiation of AI therapy with either letrozole or anastrozole. Patients completed two validated self-report questionnaires assessing pain, stiffness, and physical function at baseline, and repeated the questionnaires at two and at six months after the initiation of treatment with an AI. Germline DNA of all patients was genotyped for seven single-nucleotide polymorphisms (SNPs) previously identified by genetic screens and genome-wide association studies as associated with AI-induced arthralgia. More than 50% of the study group experienced arthralgia symptoms. Genetic analysis revealed that four SNPs, in CYP19A1 (rs4775936) and ESR1 (rs9322336, rs2234693, rs9340799), were associated with the development of arthralgia (adjusted P = 0.016, 0.018, 0.017, 0.047). High body mass index (BMI) was also associated with the development of arthralgia symptoms (adjusted P = 0.001). Patients prescribed letrozole were significantly more likely to develop arthralgia than patients on anastrozole (P = 0.018), and also more likely to discontinue AI therapy due to arthralgia. The CYP19A1 (rs4775936) SNP was significantly associated with discontinuation of therapy due to intolerable arthralgia. Our results suggested that BMI and AI drug (letrozole versus anastrozole) were clinical predictors of arthralgia, while genetic variants rs4775936, rs9322336, rs2234693, and rs9340799 were genetic predictors of AI-induced arthralgia. Significantly, rs4775936 was also a predictor of discontinuation of therapy.
Publication Date: 2020-07-08
Journal: Breast cancer research and treatment

Association of ESR1 polymorphism rs2234693 and rs9340799 with postmenopausal osteoporosis in a Chinese population.
Postmenopausal osteoporosis (PMO) is the most common type of primary osteoporosis. ESR1 polymorphism rs2234693 and rs9340799 has been widely studied as a candidate gene associated with PMO, however, the findings were inconclusive. The present study aims to explore the relationship of ESR1 polymorphism rs2234693 and rs9340799 with PMO risk in a Chinese Han population. PMO patients and healthy controls were recruited from gynecology department. DNA of all participants were extracted from the peripheral blood samples and genotyped by Mass Array method. A meta-analysis of case control studies was also conducted to further elucidate the relationship of polymorphism with PMO. Our results revealed that there were no associations of rs2234693 with PMO. However, GG genotype of rs9340799 was associated with a higher risk of PMO (OR = 1.51, 95%CI:1.08-4.34, p = 0.03), even adjusting for risk factors (OR = 1.83, 95%CI: 1.12-5.04, p = 0.04). Logistic regression analysis showed that dominant model was associated with a higher risk of PMO (OR = 2.07, 95%CI: 1.02-5.16, p = 0.02) after correcting the risk factors (OR = 2.14, 95%CI:1.12-5.64, p = 0.04); In addition, the Meta-analysis results revealed that both two polymorphisms were not associated with PMO. In conclusion, ESR1 polymorphism rs9340799 was associated with PMO. However, well designed studies with larger sample sizes are required to further elucidate the associations.
Publication Date: 2020-06-05
Journal: BMC musculoskeletal disorders

The AGT Haplotype of the ESR2 Gene Containing the Polymorphisms rs2077647A, rs4986938G, and rs1256049T Increases the Susceptibility of Unexplained Recurrent Spontaneous Abortion in Women in the Chinese Hui Population.
BACKGROUND Estrogen has an important role in unexplained recurrent spontaneous abortion (URSA). Polymorphisms of the ESR1 gene and the ESR2 gene have been identified as risk factors for URSA, but with varied associations in Chinese populations. This study aimed to compare the role of gene polymorphisms of ESR1 and ESR2 and the risk of URSA in the Chinese Hui and Chinese Han populations. MATERIAL AND METHODS Chinese Hui women (n=171) and Chinese Han women (n=234) with URSA were compared with healthy controls (n=417) matched by ethnicity and age. Genotyping was performed using direct sequencing and identified three polymorphisms of the ESR1 gene (rs9340799, rs2234693, and rs3798759) and three polymorphisms of the ESR2 gene (rs207764, rs4986938, and rs1256049). The association between ESR1 and ESR2 gene polymorphisms and the risk of URSA was evaluated statistically using the odds ratio (OR) and 95% confidence interval (CI). RESULTS No association was detected between the allelic, dominant, and recessive models of ESR1 and ESR2 gene polymorphisms and the risk of URSA in Chinese Han and Hui populations (p>0.05). The distribution of the AGT haplotype containing ESR2 gene polymorphisms rs2077647A, rs4986938G, and rs1256049T was significantly reduced in patients with URSA compared with controls in the Chinese Hui population (OR, 0.29; 95% CI, 0.14-0.62; p=0.0009; padj=0.005). CONCLUSIONS The AGT haplotype of the ESR2 gene containing the polymorphism rs2077647A, rs4986938G, and rs1256049T (ESR2 hapAGT) was a protective factor for URSA in women in the Chinese Hui population when compared with the Chinese Han population.
Publication Date: 2020-05-03
Journal: Medical science monitor : international medical journal of experimental and clinical research

Association between rankl [RS9594759] and IL10 [RS1800896] Genes polymorphism and deciduous tooth eruption terms in Ukrainians born macrosomic.
The aim: The article deals with analyzing the influence of polymorphic variants of CYP19A1 [rs2414096, rs936306], ESR1 [rs2234693, rs9340799], IL1 [rs1143627], IL6 [rs1800796], IL10 [rs1800896] and RANKL [rs959389] genes on deciduous tooth eruption terms in individuals born macrosomic. Materials and methods: 171 individuals participated in the multi-stage study (144 macosomic-at-birth individuals and 27 normosomic-at-birth persons). This study included only persons who have preserved information about the timing of deciduous tooth eruption - 159 persons (aged from 4 to 55 years), male and female (male / female ratio was 1.5 / 1). Results and conclusions: The presence of the G allele in CYP19A1 [rs2414096] gene and the -351 A allele in ESR1 [rs9340799] gene were found to be risk factors for fetal macrosomia formation. The research revealed an association of RANKL [rs9594759] gene variants which is a multiplicative model of inheritance and IL-10 [rs1800896], an overdominant model of inheritance, with an increased risk of tooth delay. Besides the variants of RANKL [rs9594759] and IL-10 [rs1800896] genes a multidirectional modifying effect on the timing of tooth eruption in macrosomic-at-birth individuals made the variant of CYP19A1 [rs2414096] gene - a significant dominant and over-dominant model of inheritance. Further analysis of intergenic interactions will facilitate the application of the obtained results in clinical practice by creating a molecular profile of individuals with deviations in the tooth eruption timing.
Publication Date: 2020-04-06
Journal: Wiadomosci lekarskie (Warsaw, Poland : 1960)

Evaluating the Association Between Dental Fluorosis and Polymorphisms in Bone Development and Mineralization Genes Among Population from a Fluoride Endemic Region of Eastern India.
Close to 12 million people in India are affected by more than the desirable level of fluoride in drinking water that could lead to dental, skeletal, and non-skeletal fluorosis. Dental fluorosis is a developmental defect that results in hypo-mineralization and pronounced porosity of enamel in the affected individuals. As estrogen receptor 1 (ESR1), collagen type 1 alpha 2 (COL1A2), bone γ-carboxyglutamic acid protein (BGLAP), and secreted protein acidic and cysteine rich (SPARC) genes are involved in bone development and mineralization, polymorphisms in these genes could be determining factors in influencing the risk to fluorosis among the exposed individuals in fluoride endemic areas. A case-control study was carried out among a total of 87 individuals (case = 36, control = 51) to examine the association between selected polymorphisms in the ESR1, COL1A2, BGLAP, and SPARC genes and risk of dental fluorosis from a fluoride endemic region of Eastern India. Altogether, 10 single nucleotide polymorphisms (SNPs) in ESR1 (rs2234693, rs2228480, rs3798577, rs2077647, and rs9340799), COL1A2 (rs42524, rs412777), BGLAP (rs1800247), and SPARC (rs6579885, rs4958278) genes were genotyped through PCR-RFLP in these subjects. The association of the SNPs for disease risk estimation was measured by odds ratio with 95% confidence interval. The risk genotypes of none of the 10 SNPs showed statistically significant association with risk of dental fluorosis. Frequencies of the haplotypes in the intragenic SNPs of the ESR1, COL1A2, and SPARC genes did not reveal any statistically significant difference between the case and control groups. The present study is the first of its kind from India that has attempted to investigate possible involvement of genetic factors in influencing the risk to fluorosis among the population from a fluoride endemic region.
Publication Date: 2020-03-19
Journal: Biological trace element research

Association of estrogen receptor gene variants (ESR1 and ESR2) with polycystic ovary syndrome in Tunisia.
SNV (single nucleotide variation) in estrogen receptor (ESR1 and ESR2) genes are susceptibility markers for complex diseases, such as cancer, metabolic disorders and women infertility. We explored six widely used SNVs in ESR1 (rs2234693, rs9340799, rs3798577, rs3020314) and ESR2 (rs1256049, rs4986938) in polycystic ovary syndrome (PCOS) in women from Tunisia (n = 254) compared to controls (n = 170). Genotyping was performed by RFLP-PCR or real-time PCR and analyzed in GoldenHelix statistical package. Logistic regression revealed association of rs2234693, rs3798577 and rs3020314 (ESR1) and rs1256049 (ESR2), the association of rs2234693 (C/T) being the strongest with P < 4.81 × 10
Publication Date: 2020-03-15
Journal: Gene

Association between Estrogen, Vitamin D and Microrna17 Gene Polymorphisms and Periapical Lesions.
This study evaluated the association between polymorphisms in genes encoding estrogen receptors 1 (ESR1) and 2 (ESR2), vitamin D receptor (VDR) and in microRNA17 (which binds to ESR1 and VDR) with persistent apical periodontitis (PAP) after the endodontic treatment. We included 162 patients who completed endodontic treatment at least one year ago and presented apical periodontitis at the beginning of the root canal therapy. Clinical and radiographic exams were performed to evaluate the presence of PAP or healthy periradicular tissues (healed). Saliva samples were collected as a genomic DNA. The genotyping of ESR1 (rs2234693 and rs9340799), ESR2 (rs1256049 and rs4986938), VDR (rs739837 and rs2228570) and miRNA17 (rs4284505) were performed by real-time PCR. Chi-square test was used to the distribution of genotype and allele frequencies. Haplotype analysis was also performed. Eighty-nine patients were included in the "healed" group and 73 in the "PAP" group. No association was found between the allelic and genotypic polymorphisms studied and PAP (p>0.05). Haplotype analysis also did not demonstrated an association (p>0.05). In conclusion, the genetic polymorphisms in ESR1, ESR2, VDR and miRNA17 are not associated with PAP.
Publication Date: 2020-03-12
Journal: Brazilian dental journal

Association of rs2234693 and rs9340799 polymorphisms of ESR1 gene in breast cancer of Mexican population.
The rs2234693 and rs9340799 ESR1 polymorphisms have shown contradictory results in studies of breast cancer (BC). The purpose of this study was to determine the frequency and association of ESR1 polymorphisms (rs2234693 and rs9340799) in BC patients of Mexican population. PCR was used to genotype rs2234693 and rs9340799 polymorphisms in the ESR1 gene in Mexican healthy subjects and breast cancer (BC) patients. The frequency of cases and control groups of rs2234693 and rs9340799 polymorphisms in the ESR1 was similar, and none has shown any association with increased BC risk (p>0.05), although the association between the haplogenotypes (rs2234693 and rs9340799 polymorphisms) and BC patients with miscarriages [CTAG variant, adjusted odds ratio (OR) 1.83 (95%CI 1.17-2.86);p=0.011] and tobacco consumption [CCGG variant, adjusted OR 1.88 (95%CI 1.11-3.19);p=0.018] was evident. Also, the homozygous genotype TT [rs2234693, OR 1.49 (95%CI 1.02-2.19);p=0.042] and GG [rs9340799, OR 2.85 (95%CI 1.144-7.10);p=0.024] showed marginal association with BC, indicating that these factors may contribute significantly to the susceptibility of risk to BC. The TA haplotype was more common in controls than in CG. BC patients with a frequency around 0.71 among study groups, but without significant difference (p>0.05). rs2234693 and rs9340799 polymorphisms in the ESR1 gene were not associated with susceptibility for BC. However, the haplogenotypes CTAG and CCGG of rs2234693 and rs9340799 polymorphisms could contribute significantly to the susceptibility of risk in BC positive at miscarriage and tobacco consumption in this sample population.
Publication Date: 2019-12-02
Journal: Journal of B.U.ON. : official journal of the Balkan Union of Oncology

ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome.
Most patients with Turner syndrome (TS) need hormone replacement therapy because of hypergonadotropic hypogonadism; individual outcomes, however, are highly variable. Our objective was to assess the influence of five estrogen receptor 1 gene (ESR1) polymorphisms (rs543650, rs1038304, rs2046210, rs2234693 and rs9340799) on adult height, breast development, uterine volume and bone mineral density (BMD). We studied 91 TS patients from a tertiary hospital using adult estrogen dose. In our group, ESR1 rs2234693 was associated with femoral neck and total hip BMD, and it accounted for around 10% of BMD variability in both sites (P < 0.01). Patients homozygous for C allele in this polymorphism had significantly lower femoral neck BMD (0.699 ± 0.065 g/cm2 vs 0.822 ± 0.113 g/cm2, P = 0.008) and total hip BMD (0.777 ± 0.118 g/cm2 vs 0.903 ± 0.098 g/cm2, P = 0.009) than patients homozygous for T allele. The other four ESR1 polymorphisms were not able to predict any of the above estrogen therapy outcomes in an isolated manner. Patients homozygous for the haplotype GCG formed by polymorphisms rs543650, rs2234693 and rs9340799 had an even more significantly lower femoral neck BMD (0.666 ± 0.049 vs 0.820 ± 0.105 g/cm2, P = 0.0047) and total hip BMD (0.752 ± 0.093 vs 0.908 ± 0.097 g/cm2, P = 0.0029) than patients homozygous for haplotypes with a T allele in rs2234693. In conclusion, homozygosity for C allele in ESR1 rs2234693 and/or for GCG haplotype appears to be associated with lower femoral neck and total hip BMD. We believe that the identification of polymorphisms related to estrogen outcomes may contribute to individualization of treatment in TS.
Publication Date: 2019-11-02
Journal: Endocrine connections

Influence of Estrogen Receptor Alpha Polymorphism on Bone Mineral Density in Iranian Children.
Bone mass acquisition in childhood is directly linked to adult bone mineral density (BMD) and fracture risk. BMD is a heritable trait, more than 70% of its variability among a population is affected by genetic factors. In the present study, we wanted to investigate the association between estrogen receptor alpha (ESR1) polymorphisms, PvuII (rs2234693) and XbaI (rs9340799), and bone area, bone mineral content (BMC), and BMD of the lumbar spine, femoral neck, and also of the total body less the head in Iranian children. The ESR1 gene PvuII and XbaI genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism. Bone area, BMC, BMD, and bone mineral apparent density (BMAD) were assessed by dual-energy X-ray absorptiometry (DEXA). Linear regression was carried out to examine the effects of the ESR1 (PvuII and XbaI) polymorphisms on DEXA outputs when adjusted for confounding factors (i.e., age, sex, BMI, and pubertal stage) in 3 models. ESR1 (PvuII) gene polymorphisms (CT vs. CC) showed significant effects on the BMC of the total body less the head in all 3 models. For ESR1 (XbaI), individuals with the AG genotype had higher lumbar spine BMD and lumbar spine BMAD compared to other genotypes. It seems that the PvuII and XbaI polymorphisms of ESR1 could be associated with BMC and BMD variation in Iranian children and adolescents.
Publication Date: 2019-10-28
Journal: Human heredity

Association between Common Genetic Variants in ESR1 and Stroke Risk: A Systematic Review and Meta-Analysis.
The associations between estrogen receptor alpha (ESR1) polymorphisms and stroke risk have been investigated in various studies, but remain controversial. The aim of this meta-analysis was to determine the relationships between ESR1 rs2234693 and rs9340799 polymorphisms and the risk of stroke. Electronic databases of PubMed, Embase, Cochrane Library, CNKI, VIP database, and WanFang database were searched for eligible studies up to March 2019. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the strength of associations under different genetic models. Ten independent case-control studies including 2151 stroke cases and 6378 control subjects were enrolled in this meta-analysis. The meta-analysis results indicated that ESR1 rs2234693 polymorphism was associated with an increased risk of stroke in recessive model (OR, 1.20; 95%CI, 1.04-1.38) and homozygous model (OR, 1.18; 95%CI, 1.00-1.38). Subgroup analysis on stroke subtype showed that rs2234693 polymorphism was connected with ischemic stroke, but not hemorrhagic stroke. The further subgroup analyses on ethnicity and gender suggested that the association between rs2234693 polymorphism and stroke risk was significant in Caucasian population and in the male population. No positive associations between rs9340799 polymorphism and stroke risk were detected in 4 genetic models. The results of this meta-analysis suggest that ESR1 rs2234693 polymorphism is significantly correlated with an increased risk of stroke, especially ischemic stroke. There was no evidence of a significant association between ESR1 rs9340799 polymorphism and stroke risk.
Publication Date: 2019-09-20
Journal: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association

Association between gender, estrogen receptors genes and anxiety levels in patients undergoing orthognathic surgery.
Orthognathic surgery is a procedure that is performed for the correction of dentofacial deformities and can lead to a change in an individual's anxiety levels. Anxiety is a multifactorial condition in which hormones and genes play an important role. This study aimed to evaluate if gender and genetic polymorphisms in estrogen receptor alpha (ESR1) and beta (ESR2) are associated with anxiety levels in patients undergoing orthognathic surgery. In this longitudinal observational study, 44 patients were included. Anxiety level assessments were performed at three time periods: 2 days before the surgical procedure and 1 and 6 months postoperatively, using the State-Trait Anxiety Inventory Scale. Gender, age, and facial profile were also evaluated. Additionally, a saliva sample from each individual was collected for the genotypic evaluation of ESR1 (rs2234693 and rs9340799) and ESR2 (rs1256049 and rs4986938) using real time polymerase chain reaction. Data were analyzed with a significance level of 0.05. There was a decrease in trait-anxiety and state-anxiety when comparing the preoperative measurements with those obtained 1 and 6 months postoperatively (p < 0.05). Females were more anxious than males at each time point during the study (p < 0.05). The genetic polymorphism rs9340799 in ESR1 was associated with state-anxiety during the preoperative period (p = 0.046). In conclusion, an individual's gender and genetic polymorphism in ESR1 are associated with anxiety in orthognathic surgery patients.
Publication Date: 2019-07-25
Journal: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery

gg ga vs aa(2)

confidence interval(4)

rs9340799 xbai(4)

rs9340799 polymorphisms(4)

catechol-o-methyltransferase comt(3)

2d 4d(2)

rs9340799 gene(2)

c pvuii(2)

t-g c-a(2)

esr1 pvuii(2)

hr(4)