Estrogen Receptor Alpha Gene Polymorphisms Research Articles

Association between estrogen receptor alpha and aryl hydrocarbon receptor gene polymorphisms in the prognosis of breast cancer in Egypt

Breast cancer is the most malignant tumor among women in the world. Single nucleotide polymorphisms (SNPs) might better predict breast cancer prognosis. PvuII (T/C substitution), XbaI (A/G substitution), and aryl hydrocarbon (AhR) (G/A substitution) were evaluated as possible genetic prognostic factors for breast cancer. The aim of the current study was to assess the relation between PvuII (rs2234693), XbaI (rs9340799), and aryl hydrocarbon receptor gene polymorphisms AhR (rs2066853) in breast cancer prognosis. This was a case-control study that included 120 breast cancer patients classified into two groups. The first group included 60 patients with good prognostic factors, and the second group included 60 patients with poor prognostic factors. Blood samples were taken from all study participants to perform the genotyping assay. We found that positive genotypes of PvuII, XbaI, and AhR polymorphisms were strongly associated with better prognostic factors for breast cancer patients, while negative genotypes of PvuII and XbaI were more and significantly prevalent in poor prognostic breast cancer patients. We conclude that PvuII T/C, XbaI G/A, and AhR G/A alleles may be prognostic for breast cancer progression. ‎

Correlation of Estrogen Receptor Alpha Serum Level with Gene Polymorphism and Its Effect on Women with Unexplained Infertility, Basra, Iraq.

Infertility of unknown etiology is considered a significant medical and health problem. This study focused on the role of the estrogen receptor alpha (ESRα) gene polymorphism, PvuII (rs2234693), and its effect on the amount of ESRα in the blood of women who cannot get pregnant for unknown reasons. A total of 184 females were evaluated, including 102 with unexplained infertility (UI) and 82 age-matched control females (with at least one living child and no history of infertility). Blood samples were collected, genomic DNA was isolated from blood samples, and the genotyping of the ESRα gene was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). ESRα expression levels were assessed by the ELISA. The study revealed that the mean serum level of ESRα was significantly higher in the case group than in the control group (P<0.05). Furthermore, the genotypes (TT, TC, and CC) and alleles (T and C) significantly influenced the plasma level of ESRα in the study population. Moreover, the presence of the C allele was considered a risk factor, and the polymorphism had a significant effect on ESRα expression level in women with UI.

Estrogen receptor alpha (ESR1) gene polymorphism (rs2234693 and rs2046210) with breast cancer risk in pashtun population of Khyber Pakhtunkhwa.

Breast cancer susceptibility is greatly influenced by single nucleotide polymorphisms (SNPs) both in penetrance and non-penetrance genes. The Estrogen Receptor Alfa (ESR1- rs2234693 and rs2046210) have been reported as risk factor of breast cancer in different ethnic groups with inconsistent results. In this study the association of ESR1 (rs2234693 and rs2046210) with breast cancer risk was investigated in patients of Khyber Pakhtunkhwa. A total of 312 females including 162 breast cancer patients and 150 healthy controls were enrolled in this study. The polymorphism was confirmed using T-ARMS-PCR. Our results revealed that ESR1-rs2234693 risk allele (C) (P = 0.21, OR = 1.27, CI = 0.87 to 1.87) and containing genotypes CC (P = 0.68, OR = 1.24, CI = 0.42 to 3.68) and TC (P = 0.23, OR = 1.32, CI = 0.83 to 2.13) were not associated with the risk of breast cancer. In case of rs2046210, the risk allele A (P < 0.0001, OR = 2.42, CI = 1.74 to 3.38) and corresponding genotypes GA (P = 0.0001, OR = 2.55, CI = 1.62 to 4.03) and AA (P = 0.02, OR = 2.20, CI = 1.12 to 4.34) were significantly associated with higher risk of breast cancer. Moreover, ESR1-rs2234693 was significantly (P < 0.05) associated with family history, stages, PR status, ER status and luminal B. The ESR1-rs2046210 showed significant (P ≤ 0.05) association with menstrual status, tumor grade and TNBC. Both the SNPs showed non-significant (P > 0.05) association with nulliparity, nodal status, HER2 status, metastasis, HER2 enriched subtype and luminal A. It is concluded that ESR1-rs2234693 is not associated with breast cancer, while rs2046210 is significantly associated with the risk of breast cancer in Khyber Pakhtunkhwa population. Further, to confirm the exact situation of ESR1 polymorphism, ESR1 existing and other SNPs need to be investigated in diverse data sets.

Evaluation of the Role of estrogen receptor alpha gene polymorphism in female sexual function : A case controlled study

Evaluation of the Role of estrogen receptor alpha gene polymorphism in female sexual function : A case controlled study

Determination of estrogen receptor alpha gene (ESR1) polymorphism and its relation to systemic lupus erythematosus disease status

BackgroundSystemic lupus erythematosus (SLE) is a chronic inflammatory disease with variable clinical manifestations that can affect various organs and tissues. Estrogen is an important element that performs a vital role in the pathology of SLE. It acts on target cells through binding to estrogen receptors (ERs). This study aimed to assess the effect of ER alpha gene polymorphism on SLE disease activity and clinical manifestations. This study included 30 SLE female patients and 20 healthy subjects as controls. ERα gene (pvull and xbal) polymorphisms were genotyped using the real-time polymerase chain reaction (RT-PCR) and correlated with clinical and laboratory manifestations of SLE as well as the activity and severity scores.ResultsRegarding ERα (rs1 2234693 Pvull) polymorphism, the TC and CC genotypes were mainly associated with SLE patients, with a high frequency of the mutant C allele. The TT genotype was found mainly in the control group. Concerning rs2 9340799 Xbal polymorphisms, the AG, AA, and GG genotypes frequencies were not significantly different between patient and controls. The TC/AA, CC/GG, and CC/GG genotypes were the most prevalent combinations among SLE patients, while the later combination is completely absent from the control group. There was a significant statistical association with the AA genotype with the neurological disorders and/or hematological affection in SLE patients. The TC genotype was more related to serositis, leucopenia and pyuria, while the AA polymorphism was associated only with leucopenia.ConclusionsWe conclude that the study offers a clue to the associations of ERα gene polymorphisms in SLE disease, and the combinations relevant to certain clinical manifestations. Estrogen level itself does not affect SLE susceptibility or activity but the mutations in its receptors are the main pathogenic factor.

Influence of low bone mineral density risk factors and vitamin D receptor and estrogen receptor alpha gene polymorphisms on annual change in bone mineral density in collegiate female athletes

Influence of low bone mineral density risk factors and vitamin D receptor and estrogen receptor alpha gene polymorphisms on annual change in bone mineral density in collegiate female athletes

Genetic estrogen receptor alpha gene PvuII polymorphism in susceptibility to knee osteoarthritis in a Chinese Han population: A southern Jiangsu study

BackgroundKnee osteoarthritis (KOA) is the most prevalent type of arthritis and genetic factors play an important role in KOA pathogenesis. Some studies have reported the association of estrogen receptor alpha (ESRα) gene polymorphism and KOA susceptibility in different populations. This study was designed to verify whether ESRα gene polymorphism (rs2234693) was associated with primary KOA in a Chinese Han population living in the south of Jiangsu. MethodsA case–control association study on single nucleotide polymorphism (SNP) rs2234693 was performed, and a total of 1953 subjects (1033 OA cases and 920 controls) were genotyped. Allele and genotype frequencies were compared between KOA cases and control participants. ResultsSNP rs2234693 was significantly associated with KOA in the dominant genetic model (TT + TC vs. CC) in all the subjects (odds ratio (OR) = 1.30; 95% confidence interval (CI) = 1.02–1.66; P = .03), and T allele frequency was also higher compared with allele C (OR = 1.38; 95% CI = 1.06–1.80; P = .02). After stratification by gender, there was no evident difference between the two groups in female and male subjects (P > .05). With a stratification for KOA severity, the combined genotype (TT + TC) (OR = 1.47; 95% CI = 1.12–1.94; P < .01) and T allele (OR = 1.61; 95% CI = 1.19–2.19; P < .01) were evidently associated with mild KOA, but not with severe KOA. ConclusionsESRα gene is of considerable importance in the pathogenesis of early-stage KOA in a Chinese Han population living in southern Jiangsu.

Trends of SHBG and ABP levels in male farmers: Influences of environmental fluoride exposure and ESR alpha gene polymorphisms

A number of epidemiological studies have reported that chronic exposure to high concentrations of fluoride not only causes dental and skeletal fluorosis but additionally affects serum levels of reproductive hormones. However, possible interaction between fluoride exposure and estrogen receptor alpha (ESRα) gene polymorphisms on sex hormone-binding globulin (SHBG) and androgen binding protein (ABP) of male farmers has not been detailed. Here, we conducted a cross-sectional study including 348 male farmers with different fluoride exposure levels from drinking water in Henan province of China to explore effects of fluoride exposure and ESRα genetic variation on serum SHBG and ABP levels. We found serum SHBG levels in male farmers from the high exposure group to be lower than those of the low exposure group. We also found that concentrations of SHBG affected ABP levels. Furthermore, fluoride exposure and single nucleotide polymorphisms at the XbaI and rs3798577 loci of the ESRα gene affected serum ABP levels. Our findings suggest that chronic fluoride exposure from drinking water is associated with alterations of serum SHBG and ABP concentrations in local male farmers and that the effect of fluoride exposure on ABP levels vary depending on ESRα gene polymorphisms.

Associations of Estrogen Receptor Alpha Gene Polymorphisms with Type 2 Diabetes Mellitus and Metabolic Syndrome: A Systematic Review and Meta-Analysis.

The associations between PvuII (T>C) and XbaI (A>G) polymorphisms of estrogen receptor alpha (ESR1) gene with type 2 diabetes mellitus (T2DM) or metabolic syndrome (MetS) are reported in many studies, but the results are inconsistent. This present work aims to assess the associations by performing a comprehensive meta-analysis. Relevant studies were searched through several databases. The pooled odd ratios (ORs) with 95% confidence intervals (CIs) were calculated to evaluate the associations of PvuII and XbaI polymorphisms with the risk of T2DM and MetS by using the STATA 14.0 software. Eight studies for T2DM and three articles about MetS were included in this meta-analysis. The overall results indicated that PvuII, rather than XbaI polymorphism, was associated with T2DM (regressive model: OR=0.673, 95% CI=0.550 to 0.823, praw<0.001, pFDR<0.003). The subgroup analysis based on race revealed an association of PvuII polymorphism with the decreased T2DM risk in Chinese population and a relationship between XbaI polymorphism and the reduced T2DM susceptibility in Caucasians. The difference of country may be one source of the heterogeneity for PvuII polymorphism and T2DM. However, neither PvuII nor XbaI polymorphism was related to the risk of MetS. The C allele of PvuII polymorphism presents a protective role in T2DM risk, especially in Chinese people. The G allele of XbaI polymorphism is related to a reduced risk for T2DM in Caucasian population. Nevertheless, neither of PvuII nor XbaI polymorphism is associated with MetS risk.

Analysis of the PvuII and XbaI polymorphisms in the estrogen receptor alpha gene in girls with central precocious puberty: a pilot study

BackgroundPrecocious puberty (PP) is defined as premature pubertal development. Its consequences surpass the physical evidence of sexual maturity with the premature epiphyseal closure of the long bones and the reduction of adult stature by varied degrees. Central PP is characteristically dependent on GnRH and most of its causes are not completely known. Altered estrogen action is also believed to be involved in the genesis of PP. In fact, estrogen receptor alpha (Rea) gene polymorphisms may be associated with early age at menarche. The objective of this study was to investigate the relationship between Reα gene polymorphisms (PvuII and XbaI) and the occurrence of central PP.MethodsA total of 73 girls with central PP and 101 girls with normal pubertal maturation were evaluated. Both groups were genotyped for the PvuII (T/C) and XbaI (A/G) polymorphisms in the Reα gene.ResultsThe frequency distribution of the XbaI (p = 0.28) and of the PvuII (p = 0.12) genotypes, as well as the XbaI and PvuII allelic variants (p = 0.23 and p = 0.86, respectively), did not differ between the groups.ConclusionThe PvuII and XbaI Rea gene polymorphisms do not appear to be related to development of central PP.

Estrogen receptor alpha gene (ESR1) polymorphism and its interaction with smoking and drinking contribute to susceptibility of systemic lupus erythematosus.

The aim of this study is to investigate the association of estrogen receptor alpha gene (ESR1) polymorphisms, additional gene-gene, and gene-environment interaction with systemic lupus erythematosus (SLE) risk. SNPStats (available online at http://bioinfo.iconcologia.net/SNPstats ) was used to investigate the Hardy-Weinberg equilibrium (HWE) in controls and association between SNP and SLE risk. Generalized multifactor dimensionality reduction (GMDR) was used to screen the interactions among SNPs and environmental risk factors; SLE risk was significantly higher in carriers of rs2234693 C allele than those with TT (TC + CC versus TT), adjusted OR (95%CI)=1.57 (1.21-2.06), and was also higher in carriers of rs9340799 G allele than those with AA (AG + GG versus AA), adjusted OR (95%CI)=1.68 (1.24-2.13). However, we also find no association between rs2228480 and SLE risk after covariates adjustment. We found a significant two-locus model (p=0.0010) involving rs2234693 and smoking; the cross-validation consistency of this model was 10/10, and the testing accuracy was 62.70%. Smokers with TC or CC of rs2234693 genotype have the highest SLE risk, compared to never-smokers with TT of rs2234693 genotype, OR (95%CI) was 2.50 (1.65-3.42), after covariates adjustment for gender, age, alcohol drinking, and BMI. We found that C allele of rs2234693 and G allele of rs9340799 within ESR1 gene, their interaction between rs2234693 and current smoking were all associated with increased SLE risk.

Association study of estrogen receptor alpha gene polymorphisms with bone mass assessed by quantitative ultrasound in young adults.

Different genetic variants in estrogen receptor alpha (ESR1) have been shown to influence bone phenotypes including quantitative bone ultrasound in elderly. We aimed to investigate the role of ESR1 polymorphisms in bone mass assessed by calcaneal quantitative ultrasound (QUS) in a population of young adults. The study sample consisted of 466 healthy individuals of Caucasian ancestry (315 females and 152 males) aged 18 and 25years (median age 20.39±2.70). Six ESR1 polymorphisms (rs302033, rs2982552, rs2982575, rs2504063, rs2234693-PvuII and rs9340799-XbaI) were selected as genetic markers and genotyped. Bone mass in the right calcaneus was estimated with QUS. In the unadjusted analysis, rs2982575 polymorphism was significantly associated with quantitative ultrasound parameter in the whole sample (p=0.014, β (95% CI)=-0.114 (-1.023, -0.115). However, after adjusting for multiple confounding factors, this association did not remain significant. For the rest of the selected polymorphisms in ESR1, no significant association was observed with calcaneal parameter. Linkage disequilibrium analysis identified a single LD block for the ESR1 gene including PvuII and XbaI SNPs (pair-wise r 2=0.66). Our results revealed a lack of significant association between ESR1 polymorphisms and calcaneal quantitative ultrasound in a cohort of young adults suggesting that ESR1 gene do not play a major role in the acquisition of bone mass during early adulthood.

Relationship of oestrogen receptor alpha gene polymorphisms with risk for benign prostatic hyperplasia and prostate cancer in Chinese men

The relationship of oestrogen receptor with benign prostatic hyperplasia (BPH) and prostate cancer (PC) is not clear at present. This study aimed to investigate the molecular mechanism underlying the occurrence and development of BPH and prostate.Two hundred forty-four PC cases, 260 BPH patients, and 222 healthy men were recruited from Han people in China, and the oestrogen receptor alpha (ESRα) gene polymorphism (rs2234693 [PvuII] and rs9340799 [XbaI]) on intron 1 was determined. The relationship of gene polymorphism with PC and BPH was evaluated with Logistic regression, and the linkage disequilibrium and haplotyping were assessed with SHEsis software.The risk for PC in BPH patients with PvuII C allele was higher (OR = 1.437, 95% CI: 1.110–1.859), but the differentiation degree of cancer cells was relatively better in PC patients with PvuII C allele (OR = 0.419, 95% CI: 0.285–0.616), and most of them are circumscribed (OR = 0.706, 95% CI: 0.485–1.02). There was significant linkage disequilibrium between PvuII and XbaI. The genotype TTAG not only induced BPH (OR = 6.260, 95% CI: 1.407–27.852), but increased the risk for PC (OR = 6.696, 95% CI: 1.504–29.801). However, the genotype TTAG in BPH patients had no relationship with the risk for PC (P > 0.05). Furthermore, men with haplotype TG were more likely to suffer PC (OR = 9.168, 95% CI: 2.393–35.119), but men with haplotype TA and enlarged prostate had a low risk for PC (OR = 0.708, 95% CI: 0.551–0.912).These results show the relationship between ESRα gene polymorphism and susceptibility to PC and BPH in Chinese men, and the ethnic and regional difference as well.

Estrogen receptor alpha gene ( ESR1) polymorphism can contribute to clinical findings in systemic lupus erythematosus patients.

Background Estrogens have a modulatory effect on several immune responses, many of which are correlated to autoimmune diseases. Estrogens act through binding to their receptors, and an overexpression of these receptors has been identified in patients with different autoimmune diseases. Here we analyzed the association of a putative functional genetic variant in the main estrogen receptor (ERα) gene ( ESR1), and the susceptibility to clinical findings and severity of SLE. Methods A total of 426 individuals (266 healthy controls and 160 SLE patients) were genotyped for the polymorphism rs2234693 in the ESR1 gene. Allele and genotype frequencies were calculated and analyzed between cases and controls using Unphased software. Results The SNP rs2234693 was not associated with SLE per se but the minor allele rs2234693-C was correlated with the presence of nephritis and discoid skin rash. On the other hand, the rs2234693-CC genotype was correlated with the absence of arthritis as well as anti-ANA and anti-RNP autoantibodies. The comprehensive clinical analysis of these patients revealed a more severe status of the disease, characterized by a younger age of onset and higher number of organs involved when compared to European populations. Conclusions Minor allele rs2234693-C was associated with renal and cutaneous involvement, as well as the absence of arthritis, anti-ANA and anti-RNP autoantibodies.

Estrogen receptor gene polymorphism in patients with degenerative lumbar scoliosis

Objective: To examine the association between development of degenerative lumbar scoliosis (DLS) and sex hormones.Methods: We investigated the association between DLS and estrogen receptor alpha (ERα) gene polymorphisms in 184 patients with a diagnosis of DLS, by determining the presences of the Pvu II and Xba I polymorphisms, measuring bone mineral densities at the lumbar spine (LSBMD) and femoral neck (FNBMD), and by investigating biochemical markers of bone turnover and comparing these results with those of 220 healthy normal controls.Results: Genotype frequencies in DLS patients and controls revealed a significant difference for the Pvu II polymorphism only (p = 0.0287). No significant difference was found between the DLS and control groups with respect to the Xba I polymorphism, bone mineral density (BMD), or biochemical markers. Furthermore, no significant association was observed between the Pvu II polymorphism and BMD, lumbar scoliosis, lateral listhesis, or biochemical markers in patients with DLS.Conclusion: These results suggest that the ERα Pvu II polymorphism influences the prevalence of DLS.

Association between Estrogen Receptor Alpha Gene Polymorphisms and Susceptibility to Idiopathic Scoliosis in Bulgarian Patients: A Case-Control Study.

BACKGROUND:The current consensus on idiopathic scoliosis maintains that it has a multifactorial etiology with genetic predisposing factors.AIM:Estrogen receptor alpha gene has been considered as candidate gene of idiopathic scoliosis.MATERIAL AND METHODS:We conducted a case-control study of Bulgarian population samples (eighty patients with idiopathic scoliosis and one hundred-sixty healthy unrelated gender-matched controls) trying to investigate the association between common genetic polymorphisms of estrogen receptor alpha and the susceptibility to idiopathic scoliosis. Molecular detection of the restriction polymorphisms XbaI and PvuII was performed by polymerase chain reaction following by restriction fragment length polymorphism. The statistical analysis was performed by Pearson’s chi-squared test.RESULTS:Our case-control study showed statistically significant association between the PvuII polymorphism and susceptibility to idiopathic scoliosis and curve progression. No genotype or allele of XbaI polymorphism was found to be correlated with the onset or severity of the disease.CONCLUSIONS:The identification of molecular markers with diagnostic and prognostic value could be useful for early detection of children at risk for the development of scoliosis and for prognosis of the risk for a rapid deformity progression. That would facilitate the therapy decisions and early stage treatment of the patient with the least invasive procedures.

Genetic polymorphism of the estrogen receptor alpha gene and susceptibility to osteoarthritis: evidence based on 15,022 subjects

Objective:Several lines of evidence suggest that estrogen receptor alpha (ER-α) gene polymorphism may influence the development of osteoarthritis (OA). However, the results are inconsistent. The aim of this study was to explore using a meta-analysis whether rs2234693 (ER-α PvuII T/C) polymorphism confers significant susceptibility to OA.Methods and results:A systematic search of all relevant studies published through 17 August 2014 was conducted using the PubMed, Web of Science, Embase, Cochrane database, Current Controlled Trials, Clinicaltrials.gov, Chinese Clinical Trial Registry, CBMdisc, CNKI and Google Scholar. All statistical analyses were done with Review Manager 5.1.4. Twelve articles involving 15 studies were included in the final meta-analysis, which contained 6417 OA cases and 8605 controls. Overall, no significant association was found between the rs2234693 polymorphism and OA risk when all studies were pooled into the meta-analysis (for C allele vs. T allele: OR = 0.99, 95% CI = 0.94–1.04, p = 0.63; for C/C vs. T/T: OR = 0.97, 95% CI = 0.87–1.08, p = 0.53; for C/C vs. T/C + T/T: OR = 0.96, 95% CI = 0.88–1.06, p = 0.43; for C/C + T/C vs. T/T: OR = 1.00, 95% CI = 0.89–1.14, p = 0.94). In the subgroup analysis, significant association was found between the rs2234693 polymorphism and the OA risk in the knee osteoarthritis (KOA) group (for C/C + T/C vs. T/T: OR = 1.15, 95% CI = 1.02–1.29, p = 0.02).Conclusions:The present meta-analysis suggests that the rs2234693 polymorphism is associated with an increased KOA risk. Additional well designed genome-wide association studies are required to confirm the result.

Associations of Estrogen Receptor Alpha and Beta Gene Polymorphisms with Lipid Levels and Insulin Resistance in Men

ObjectiveThe association of four single nucleotide polymorphisms in estrogen receptor alpha (ESR1) and beta (ESR2) genes with lipid levels and insulin resistance in men. Design and methodsLipids, glucose, insulin and HOMA-IR were determined, in a population-based, cross-sectional, cohort of 170 apparently healthy middle-aged Greek men, along with body mass index (BMI), waist circumference (WC) and percentage of body fat content (%fat). Genotyping of ESR1 for PvuII and XbaI and ESR2 for RsaI and AluI polymorphisms was performed. ResultsAssociations of AluI with LDL-Chol (mean±SD, aa 4.3±1.1 vs. Aa 3.7±1.0 and ΑΑ 4.2±1.1, p=0.023) and RsaI with HOMA-IR [median (IQR), RR 1.55 (0.88–2.49) vs. Rr/rr 1.69 (0.72–2.29), p=0.032] were found. Synergistic effects of RsaI and AluI of ESR2 gene on LDL-Chol levels, %fat and WC, as well as a synergistic effect of both ESR1 and ESR2 genes on levels of TChol (p=0.01) and LDL-Chol (p=0.027) were also shown. These findings remained significant after adjustment for potential confounders.Significant independent associations of PvuII with %fat (mean±SD, pp 24.6±5.3 vs Pp 22.4±5.2 and PP 21.2±6.7, p=0.044), and RsaI with %fat (RR 22.6±5.5 vs. Rr/rr 25.2±6.3, p=0.015) and WC (mean±SD, RR 97.4±10.4 vs. Rr/rr 102.6±12.6, p=0.013) were found.Synergistic effects on %fat, between the ESR1 polymorphisms (p=0.004), between the ESR2 polymorphisms and among all four ESR polymorphisms studied were also present. ConclusionsESR2 is associated with LDL-Chol levels and HOMA-IR in men independently of confounders. Body fat is affected by both genes. Furthermore, a synergistic effect of ESR1 and ESR2 on TChol, LDL-Chol and %fat, was shown.

Association between dietary phytoestrogen intake and bone mineral density varied with estrogen receptor alpha gene polymorphisms in southern Chinese postmenopausal women.

several studies have investigated the relationship between the estrogen receptor (ER) gene polymorphisms and the efficacy of estrogen replacement therapy in postmenopausal osteoporosis. However, the association of ER polymorphisms with the effects of dietary phytoestrogens on bone metabolism has not yet been reported. This study explores the possibility that ER alpha subtype (ERα) gene polymorphisms are involved in the effects of dietary phytoestrogens on bone mineral density (BMD) in postmenopausal women. a total of 301 postmenopausal southern Chinese women were enrolled. Dietary phytoestrogen intake was evaluated using a food frequency questionnaire. ERα polymorphisms were examined with restriction fragment length polymorphism at the polymorphic PvuII and XbaI sites within intron 1. Dual-energy X-ray absorptiometry scans were performed to determine the BMD of the lumbar spine and hip. the positive association of the lumbar spine BMD with dietary phytoestrogen intake was maintained only in groups with pp or xx genotypes (p < 0.05) and disappeared in groups with other genotypes. A positive association of the hip BMD with dietary phytoestrogen intake was observed only in the xx genotype group (p < 0.05). the association of the dietary phytoestrogen intake and BMD in southern Chinese postmenopausal women varied with ERα gene polymorphisms.

Estrogen receptor-alpha polymorphism in patients with and without degenerative disease of the temporomandibular joint

Aims:The genetic aspect of degenerative joint disease (DJD) of the temporomandibular joint is poorly understood. The prevalence of the estrogen receptor alpha (ER-alpha) gene polymorphism in patients with and without DJD using xbal and pvull restriction fragment length polymorphisms (RFLPs) was studied.Methodology:DNA samples from 42 DJD+ and 36 DJD− subjects were amplified. A 346-base pair long ER-alpha gene fragment containing the two sites of polymorphism in intron 1 was analyzed for xbal and pvull RFLP. Statistical analysis was carried out using Fisher’s exact test and two-group t-test.Results:Five different ER-alpha genotypes were found in both groups. These were PXPX, pxpx, pxPX, PxPX, and pxPx.Discussion:There was a higher number of pxpx and pxPX genotypes in the DJD+ samples compared to the DJD− group, which suggests the presence of polymorphism possibly modulates the ER-alpha activity in bone and contributes to the degenerative process in the joint.