Редактирование: ESR2

Estrogen receptor beta (ER-beta) (Nuclear receptor subfamily 3 group A member 2) [ESTRB] [NR3A2]

==Publications==

{{medline-entry
|title=Inter-Regional Variations in Gene Expression and Age-Related Cortical Thinning in the Adolescent Brain.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/28334178
|abstract=Age-related decreases in cortical thickness observed during adolescence may be related to fluctuations in sex and stress hormones. We examine this possibility by relating inter-regional variations in age-related cortical thinning (data from the Saguenay Youth Study) to inter-regional variations in expression levels of relevant genes (data from the Allen Human Brain Atlas); we focus on genes coding for glucocorticoid receptor ([[NR3C1]]), androgen receptor ([[AR]]), progesterone receptor ([[PGR]]), and estrogen receptors ([[ESR1]] and [[ESR2]]). Across 34 cortical regions (Desikan-Killiany parcellation), age-related cortical thinning varied as a function of mRNA expression levels of [[NR3C1]] in males (R2 = 0.46) and females (R2 = 0.30) and [[AR]] in males only (R2 = 0.25). Cortical thinning did not vary as a function of expression levels of [[PGR]], [[ESR1]], or [[ESR2]] in either sex; this might be due to the observed low consistency of expression profiles of these 3 genes across donors. Inter-regional levels of the [[NR3C1]] and [[AR]] expression interacted with each other vis-à-vis cortical thinning: age-related cortical thinning varied as a function of [[NR3C1]] mRNA expression in brain regions with low (males: R2 = 0.64; females: R2 = 0.58) but not high (males: R2 = 0.0045; females: R2 = 0.15) levels of [[AR]] mRNA expression. These results suggest that glucocorticoid and androgen receptors contribute to cortical maturation during adolescence.
|mesh-terms=* Adolescent
* Aging
* Cerebral Cortex
* Child
* Female
* Gene Expression
* Humans
* Image Processing, Computer-Assisted
* Magnetic Resonance Imaging
* Male
* RNA, Messenger
* Receptors, Androgen
* Receptors, Estrogen
* Receptors, Glucocorticoid
* Receptors, Progesterone
* Sex Factors
* Transcriptome

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093352
}}
{{medline-entry
|title=Age- and menopause-related differences in subcutaneous adipose tissue estrogen receptor mRNA expression.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/28288896
|abstract=Changes in estrogen receptor (ER) expression likely underlie differential metabolic effects of estrogen in pre- and postmenopausal women. The aim of the current study was to determine whether ER gene expression in abdominal and femoral subcutaneous adipose tissue (SAT) was associated with age, menopause, or regional adiposity. We studied pre- and post-menopausal (n=23 and 22, respectively; age 35-65y) normal weight (mean±SD; BMI 23.7±2.5kg/m ) women with similar total fat mass. Abdominal and femoral SAT ERα ([[ESR1]]) and ERβ ([[ESR2]]) mRNA expression was determined by qPCR. Total fat mass did not differ between pre- and postmenopausal women (22.7±5.3vs. 21.7±5.3kg). Compared to premenopausal women, [[ESR1]] and the ratio of [[ESR1]] to [[ESR2]] were lower (p≤0.05) in postmenopausal abdominal and femoral SAT. [[ESR1]] and [[ESR1]]:[[ESR2]] were inversely associated with age in abdominal SAT (r=-0.380 and r=-0.463, respectively; p<0.05) and femoral SAT (r=-0.353 and r=-0.472, respectively; p<0.05). [[ESR2]] was not related to age or menopause. The inverse association between [[ESR1]] and age persisted after adjusting for trunk fat mass, estradiol, or leptin. Among healthy pre- and postmenopausal women, increased age was associated with a decreased balance of ERα to ERβ in abdominal and femoral subcutaneous adipose tissue.
|mesh-terms=* Adipose Tissue
* Adiposity
* Adult
* Aged
* Aging
* Estradiol
* Female
* Humans
* Menopause
* Middle Aged
* RNA, Messenger
* Receptors, Estrogen
|keywords=* Adipose tissue
* Aging
* Estrogen receptor gene expression
* Menopause
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423653
}}
{{medline-entry
|title=Differential roles of estrogen receptors, [[ESR1]] and [[ESR2]], in adult rat spermatogenesis.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/27004961
|abstract=Estrogens, through their receptors, play an important role in regulation of spermatogenesis. However, the precise role of the estrogen receptors ([[ESR1]] and [[ESR2]]) has been difficult to determine as in vivo estradiol treatment would signal through both the ESRs. Hence we had developed in vivo selective ESR agonist administration models in adult male rats to decipher the individual roles of the ESRs. Treatment with both [[ESR1]] and [[ESR2]] agonists decreased sperm counts after 60 days of treatment. The present study aimed to delineate the precise causes of decreased sperm counts following treatment with the two ESR agonists. Treatment with [[ESR1]] agonist causes an arrest in differentiation of round spermatids into elongated spermatids, mainly due to down-regulation of genes involved in spermiogenesis. [[ESR2]] agonist administration reduces sperm counts due to spermiation failure and spermatocyte apoptosis. Spermiation failure observed is due to defects in tubulobulbar complex formation because of decrease in expression of genes involved in actin remodelling. The increase in spermatocyte apoptosis could be due to increase in oxidative stress and decrease in transcripts of anti-apoptotic genes. Our results suggest that the two ESRs regulate distinct aspects of spermatogenesis. [[ESR1]] is mainly involved with regulation of spermiogenesis, while [[ESR2]] regulates spermatocyte apoptosis and spermiation. Activation of estrogen signaling through either of the receptors can affect their respective processes during spermatogenesis and lead to low sperm output. Since many environmental estrogens can bind to the two ESRs with different affinities, these observations can be useful in understanding their potential effects on spermatogenesis.
|mesh-terms=* Aging
* Animals
* Apoptosis
* Cell Count
* Cell Polarity
* Cell Shape
* Cells, Cultured
* Down-Regulation
* Follicle Stimulating Hormone
* Male
* Nitriles
* Oxidative Stress
* Phenols
* Pyrazoles
* Rats
* Real-Time Polymerase Chain Reaction
* Receptors, Estrogen
* Seminiferous Tubules
* Signal Transduction
* Spermatids
* Spermatogenesis
* Testis
* Testosterone
|keywords=* Estrogen receptors
* Germ cell apoptosis
* Spermatogenesis
* Spermiation
* Spermiogenesis
|full-text-url=https://sci-hub.do/10.1016/j.mce.2016.03.024
}}
{{medline-entry
|title=Effects of Age and Estradiol on Gene Expression in the Rhesus Macaque Hypothalamus.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/25765287
|abstract=The hypothalamus plays a key role in mediating the effects of estrogen on many physiological functions, including reproduction, metabolism, and thermoregulation. We have previously observed marked estrogen-dependent gene expression changes within the hypothalamus of rhesus macaques during aging, especially in the KNDy neurons of the arcuate-median eminence ([[ARC]]-ME) that produce kisspeptin, neurokinin B, and dynorphin A. Little is known, however, about the mechanisms involved in mediating the feedback from estrogen onto these neurons. We used quantitative real-time PCR to profile age- and estrogen-dependent gene expression changes in the rhesus macaque hypothalamus. Our focus was on genes that encode steroid receptors (ESR1, [[ESR2]], [[PGR]], and AR) and on enzymes that contribute to the local synthesis of 17β-estradiol (E2; [[STS]], HSD3B1/2, HSD17B5, and CYP19A). In addition, we used RT(2) Profiler™ PCR Arrays to profile a larger set of genes that are integral to hypothalamic function. [[KISS1]], [[KISS1]]R, [[TAC3]], and [[NPY2R]] mRNA levels increased in surgically menopausal (ovariectomized) old females relative to age-matched ovariectomized animals that received E2 hormone therapy. In contrast, [[PGR]], HSD17B, [[GNRH2]], [[SLC6A3]], [[KISS1]], [[TAC3]], and [[NPY2R]] mRNA levels increased after E2 supplementation. The rhesus macaque [[ARC]]-ME expresses many genes that are responsive to changes in circulating estrogen levels, even during old age, and these may contribute to causing the normal and pathophysiological changes that occur during menopause.
|mesh-terms=* Aging
* Animals
* Arcuate Nucleus of Hypothalamus
* Estradiol
* Female
* Gene Expression
* Macaca mulatta
* Menopause
* Ovariectomy
* Receptors, Steroid

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4475460
}}
{{medline-entry
|title=Estrogen receptor β variants modify risk for Alzheimer's disease in a multiethnic female cohort.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24326520
|abstract=Few studies of gene variants that affect estrogen activity investigate their association with age at onset of Alzheimer's disease (AD) in women of different ethnicities. We investigated the influence of [[ESR2]] polymorphisms on age at onset of AD in a multiethnic cohort of women. To determine whether gene variants would affect risk for AD differently in women of different population ancestries. Among 1,686 women participating in the Washington Heights Inwood Columbia Aging Project (WHICAP), association with risk for AD was assessed for 20 [[ESR2]] single-nucleotide polymorphisms (SNPs) using multivariate logistic regression, adjusting for age at time of study enrollment, presence of an [[APOE]] ε4 allele, years of education, and body mass index. Increased risk for AD was associated with four [[ESR2]] SNPs in women of predominantly Caucasian AIMS-defined ancestry: rs944045, rs1256062, rs10144225, and rs2274705 (OR range 1.6-1.9, empiric p-value range 0.002-0.004). A separate SNP (rs10137185) was associated with decreased risk for AD in women who identified themselves as Black (OR 0.6, 95% CI = 0.4-0.9). When vascular risk factors were included in the model, a separate SNP (rs1256059) was associated with increased risk for AD in women of admixed/Hispanic ancestry (OR 1.5, 95% CI = 1.1-2.4). [[ESR2]] polymorphisms affect risk for AD in women, and risk alleles vary by AIMs-defined ancestry and self-identified ethnicity. These effects are possibly due to different linkage disequilibrium patterns or differences in comorbid risk factors mediating SNP effect on risk for AD by group.
|mesh-terms=* Aged
* Aged, 80 and over
* Aging
* Alzheimer Disease
* Cohort Studies
* Estrogen Receptor beta
* Ethnic Groups
* Female
* Genetic Predisposition to Disease
* Genotype
* Humans
* Linkage Disequilibrium
* Polymorphism, Single Nucleotide
* Risk Factors
|keywords=* Alzheimer's disease
* Hispanic
* estrogen receptor 2
* estrogen receptors beta
* genetic association studies
* women
|full-text-url=https://sci-hub.do/10.3233/JAD-130551
}}
{{medline-entry
|title=Brain volumes in late life: gender, hormone treatment, and estrogen receptor variants.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24269019
|abstract=Structural imaging studies suggest gender differences in brain volumes; however, whether hormone treatment (HT) can protect against age-related structural changes remains unknown, and no prior neuroimaging study has investigated potential interactions between HT and estrogen receptor (ESR) polymorphisms. Magnetic resonance imaging was used to measure gray and white matter, hippocampal volume, corpus callosum, cerebrospinal fluid (CSF), total intracranial volume (ICV) and white matter lesions (WML) in 582 non-demented older adults. In multivariable analysis, when compared to women who had never used HT, men and women currently on treatment, but not past users, had significantly smaller ratios of gray matter to ICV and increased atrophy (CSF/ICV ratio). Hippocampal and white matter volume as well as the corpus callosum area were not significantly different across groups. [[ESR2]] variants were not significantly associated with brain measures, but women with the [[ESR1]] rs2234693 C allele had significantly smaller WML. Furthermore this association was modified by HT use. Our results do not support a beneficial effect of HT on brain volumes in older women, but suggest the potential involvement of [[ESR1]] in WML.
|mesh-terms=* Aged
* Aging
* Alleles
* Atrophy
* Brain
* Estradiol
* Estrogen Receptor alpha
* Estrogen Receptor beta
* Estrogen Replacement Therapy
* Female
* Humans
* Magnetic Resonance Imaging
* Male
* Polymorphism, Genetic
* Progesterone
* Sex Characteristics
|keywords=* Estrogen receptor polymorphisms
* Gender differences
* Gray matter
* Hormone treatment
* Imaging
* White matter
* White matter lesions
|full-text-url=https://sci-hub.do/10.1016/j.neurobiolaging.2013.09.026
}}
{{medline-entry
|title=Prospective analysis of the association between estrogen receptor gene variants and the risk of cognitive decline in elderly women.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/23932494
|abstract=A plethora of data suggests a role for estrogen in cognitive function and genetic variants in the estrogen receptors [[ESR1]] and [[ESR2]] have been implicated in a range of hormone-sensitive diseases. It remains unknown however, whether ESR polymorphisms are associated with the risk of decline in specific domains of cognitive function. Data came from 3799 non-demented, community-dwelling elderly women recruited in France to the 3C Study. A short cognitive test battery was administered at baseline and 2, 4 and 7 years follow-up to assess global function, verbal fluency, visual memory, psychomotor speed and executive function. Detailed socio-demographic, behavioral, physical and mental health information was also gathered and genotyping of five common [[ESR1]] and [[ESR2]] polymorphisms was also performed. In multivariable-adjusted Cox analysis, [[ESR1]] rs2234693 and rs9340799 were not significantly associated with the risk of decline on any of the cognitive tasks. However, significant associations with [[ESR2]] polymorphisms were identified. The A allele of rs1256049 was associated with an increased risk of substantial decline in visual memory (HR:1.64, 95% CI: 1.23-2.18, p=0.0007), psychomotor speed (HR:1.43, 95% CI: 1.12-1.83, p=0.004), and on the incidence of Mild Cognitive Impairment (HR:1.31, 95% CI: 1.05-1.64, p=0.02). There was also a weaker association between the A allele of rs4986938 and a decreased risk of decline in psychomotor speed. Our large multicentre prospective study provides preliminary evidence that [[ESR2]] genetic variants may be associated with specific cognitive domains and suggests that further examination of the role of this gene in cognitive function is warranted. 
|mesh-terms=* Aged
* Aging
* Cognition Disorders
* Estrogen Receptor alpha
* Estrogen Receptor beta
* Female
* Genetic Association Studies
* Genotype
* Humans
* Longitudinal Studies
* Mental Status Schedule
* Neuropsychological Tests
* Polymorphism, Single Nucleotide
* Proportional Hazards Models
* Retrospective Studies
|keywords=* Cognition
* Cognitive decline
* Estrogen receptor
* Estrogen receptor polymorphisms
* Women
|full-text-url=https://sci-hub.do/10.1016/j.euroneuro.2013.06.003
}}
{{medline-entry
|title=Estrogen receptor alpha single nucleotide polymorphism as predictor of diabetes type 2 risk in hypogonadal men.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/23506158
|abstract=Estradiol (E2) is, apart from its role as a reproductive hormone, also important for cardiac function and bone maturation in both genders. It has also been shown to play a role in insulin production, energy expenditure and in inducing lipolysis. The aim of the study was to investigate if low circulating testosterone or E2 levels in combination with variants in the estrogen receptor alpha ([[ESR1]]) and estrogen receptor beta ([[ESR2]]) genes were of importance for the risk of type-2 diabetes. The single nucleotide polymorphisms rs2207396 and rs1256049, in [[ESR1]] and [[ESR2]], respectively, were analysed by allele specific PCR in 172 elderly men from the population-based Tromsø study. The results were adjusted for age. In individuals with low total (≤11 nmol/L) or free testosterone (≤0.18 nmol/L) being carriers of the variant A-allele in [[ESR1]] was associated with 7.3 and 15.9 times, respectively, increased odds ratio of being diagnosed with diabetes mellitus type 2 (p = 0.025 and p = 0.018, respectively). Lower concentrations of E2 did not seem to increase the risk of being diagnosed with diabetes. In conclusion, in hypogonadal men, the rs2207396 variant in [[ESR1]] predicts the risk of type 2 diabetes.
|mesh-terms=* Age Distribution
* Aged
* Aged, 80 and over
* Aging
* Alleles
* Cohort Studies
* Confidence Intervals
* Diabetes Mellitus, Type 2
* Estrogen Receptor alpha
* Gene Expression Regulation
* Humans
* Hypogonadism
* Incidence
* Male
* Middle Aged
* Odds Ratio
* Polymerase Chain Reaction
* Polymorphism, Single Nucleotide
* Predictive Value of Tests
* Retrospective Studies
* Risk Assessment
* Testosterone

|full-text-url=https://sci-hub.do/10.3109/13685538.2013.772134
}}
{{medline-entry
|title=Age- and cell-related gene expression of aromatase and estrogen receptors in the rat testis.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/20554652
|abstract=Spermatogenesis is a complex and coordinated process leading to the formation of spermatozoa. This event, which is under the control of numerous endocrine and paracrine factors, seems to also be controlled by estrogens which exert their effects via nuclear estrogen receptors (ESRs) [[ESR1]] and [[ESR2]]. Estrogens are synthesized by aromatase which is biologically expressed in the rat testis. The objective of our study was to clarify the gene expression patterns of aromatase and ESRs according to age and in the two compartments of the adult rat testis. In the adult, transcripts of aromatase vary according to the germ cell type and to the stages of seminiferous epithelium, a maximum being observed at stage I. The [[ESR1]] gene is highly expressed in the adult testis and in stages from VIIc-d to XIV. Moreover, both ESR mRNA levels are higher in purified round spermatids than in pachytene spermatocytes, suggesting a putative role of estrogens in the haploid steps of spermatogenesis. The variability of the results in the expression of both ESRs led us to explore the putative presence of variants in the rat testis. Concerning [[ESR1]], we have shown the presence of the full-length form and of one isoform with exon 4 deleted. For [[ESR2]], besides the wild type, three isoforms were observed: one with exon 3 deleted, another with an insertion of 54 nucleotides, and the last one with both modifications. Therefore, the stage-regulated expression of aromatase and [[ESR1]] genes in the rat testis suggests a likely role of estrogens in spermatogenesis.
|mesh-terms=* Aging
* Animals
* Aromatase
* Cell Compartmentation
* Evolution, Molecular
* Gene Expression Regulation, Developmental
* Gene Expression Regulation, Enzymologic
* Male
* Organ Specificity
* Protein Isoforms
* RNA, Messenger
* Rats
* Rats, Sprague-Dawley
* Receptors, Estrogen
* Sertoli Cells
* Testis

|full-text-url=https://sci-hub.do/10.1677/JME-10-0041
}}
{{medline-entry
|title=Effect of polymorphisms in selected genes involved in pituitary-testicular function on reproductive hormones and phenotype in aging men.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/20173016
|abstract=Polymorphisms in genes involved in regulation, biosynthesis, metabolism, and actions of testicular sex hormones may influence hormone balance and phenotype of aging men. We investigated the relationships between polymorphisms in genes related to pituitary-testicular endocrine function and health status. Using cross-sectional baseline data, we conducted a multinational prospective cohort observational study consisting of a population survey of community-dwelling men. A total of 2748 men, aged 40-79 (mean  /- sd, 60.2   11.2) yr, were randomly recruited from eight European centers. Forty-three polymorphisms were genotyped in the following genes: androgen receptor ([[AR]]), estrogen receptor-alpha and -beta (ESR1 and [[ESR2]]), steroid 5alpha-reductase type II (SRD5A2), 17alpha-hydroxylase/17,20-lyase (CYP17A1), aromatase ([[CYP19A1]]), sex hormone-binding globulin ([[SHBG]]), LH beta-subunit ([[LHB]]), and LH receptor (LHCGR). We measured the associations between gene polymorphisms and endocrine, metabolic, and phenotypic parameters related to aging and sex hormone action. Several polymorphisms in [[SHBG]], [[ESR2]], [[AR]], [[CYP19A1]], and [[LHB]] were significantly associated with circulating levels of [[SHBG]], LH, total, free, and bioavailable testosterone and estradiol, the LH x testosterone product, and indices of insulin sensitivity. Apart from several previously reported associations between genes affecting estrogen levels and heel ultrasound parameters, no associations existed between polymorphisms and nonhormonal variables (anthropometry, blood lipids, blood pressure, hemoglobin, prostate symptoms, prostate-specific antigen, sexual dysfunction, cognition). In aging men, polymorphisms in genes related to the pituitary-testicular endocrine function significantly influence circulating LH, testosterone, and estradiol levels, but the downstream effects may be too small to influence secondary phenotypic parameters.
|mesh-terms=* Adult
* Aged
* Aging
* Cohort Studies
* Cross-Sectional Studies
* DNA
* Databases, Genetic
* Europe
* Gene Frequency
* Genotype
* Gonadal Steroid Hormones
* Health Status
* Humans
* Male
* Middle Aged
* Phenotype
* Pituitary Gland
* Polymorphism, Genetic
* Polymorphism, Single Nucleotide
* Prospective Studies
* Sex Hormone-Binding Globulin
* Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
* Testis

|full-text-url=https://sci-hub.do/10.1210/jc.2009-2071
}}
{{medline-entry
|title=Developmental programming: prenatal androgen excess disrupts ovarian steroid receptor balance.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/19261835
|abstract=Steroid hormones play an important role in reproduction and the receptors through which they signal change in a developmental time, follicle stage, and cell-specific manner. Disruption in steroid receptor expression affects follicle formation and differentiation. In this study, using prenatal testosterone (T) and dihydrotestosterone (DHT)-treated female sheep as model systems, we tested the hypothesis that prenatal androgen excess disrupts the developmental ontogeny of ovarian steroid receptor protein expression. Pregnant Suffolk ewes were injected twice weekly with T propionate or DHT propionate (a non-aromatizable androgen) in cottonseed oil from days 30 to 90 of gestation. Changes in ovarian estrogen receptors (ER; [[ESR1]], [[ESR2]]), androgen receptor ([[AR]]) and progesterone receptor ([[PGR]]) proteins were determined at fetal (days 90 and 140), postpubertal (10 months), and adult (21 months; only prenatal T-treated sheep studied) ages by immunohistochemistry. Prenatal T and DHT treatment induced selective increase in [[AR]] but not ER or [[PGR]] expression in the stroma and granulosa cells of fetal days 90 and 140 ovaries. An increase in [[ESR1]] and decrease in [[ESR2]] immunostaining coupled with increased [[AR]] expression were evident in granulosa cells of antral follicles of 10- and 21-month-old prenatal T but not DHT-treated females (analyzed only at 10 months). These findings provide evidence that an early increase in ovarian [[AR]] is the first step in the altered ovarian developmental trajectory of prenatal T-treated females, and manifestations of postnatal ovarian dysfunction are likely facilitated via altered equilibrium of antral follicular granulosa cell ER/[[AR]] protein expression.
|mesh-terms=* Age Factors
* Aging
* Animals
* Blotting, Western
* Dihydrotestosterone
* Estrogen Receptor alpha
* Estrogen Receptor beta
* Female
* Gestational Age
* Immunohistochemistry
* Ovary
* Pregnancy
* Prenatal Exposure Delayed Effects
* Receptors, Androgen
* Receptors, Progesterone
* Receptors, Steroid
* Sheep
* Testosterone Propionate

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968529
}}
{{medline-entry
|title=Genetic variation in sex hormone genes influences heel ultrasound parameters in middle-aged and elderly men: results from the European Male Aging Study (EMAS).
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/18767927
|abstract=Genes involved in sex hormone pathways are candidates for influencing bone strength. Polymorphisms in these genes were tested for association with heel quantitative ultrasound (QUS) parameters in middle-aged and elderly European men. Men 40-79 yr of age were recruited from population registers in eight European centers for the European Male Aging Study (EMAS). Polymorphisms were genotyped in [[AR]], [[ESR1]], [[ESR2]], [[CYP19A1]], [[CYP17A1]], [[SHBG]], [[SRD5A2]], [[LHB]], and [[LHCGR]]. QUS parameters broadband ultrasound attenuation (BUA) and speed of sound (SOS) were measured in the heel and used to derive BMD. The relationships between QUS parameters and polymorphisms were assessed using linear regression adjusting for age and center. A total of 2693 men, with a mean age of 60.1  /- 11.1 (SD) yr were included in the analysis. Their mean BUA was 80.0  /- 18.9 dB/Mhz, SOS was 1550.2  /- 34.1 m/s, and BMD was 0.542  /- 0.141 g/cm(2). Significant associations were observed between multiple SNPs in a linkage disequilibrium (LD) block within [[CYP19A1]], peaking at the TCT indel with the deletion allele associating with reduced ultrasound BMD in heterozygotes (beta =-0.016, p = -0.005) and homozygotes (beta = -0.029, p = 0.001). The results for BUA and SOS were similar. Significant associations with QUS parameters were also observed for the CAG repeat in [[AR]] and SNPs in [[CYP17A1]], [[LHCGR]], and [[ESR1]]. Our data confirm evidence of association between bone QUS parameters and polymorphisms in [[CYP19A1]], as well as modest associations with polymorphisms in [[CYP17A1]], [[ESR1]], [[LHCGR]], and [[AR]] in a population sample of European men; this supports a role for genetically determined sex hormone actions in influencing male bone health.
|mesh-terms=* Aged
* Aging
* Aromatase
* Bone Density
* Calcaneus
* European Continental Ancestry Group
* Genetic Variation
* Genotype
* Gonadal Steroid Hormones
* Humans
* Male
* Middle Aged
* Polymorphism, Genetic
* Repetitive Sequences, Nucleic Acid
* Ultrasonography

|full-text-url=https://sci-hub.do/10.1359/jbmr.080912
}}
{{medline-entry
|title=A digenic combination of polymorphisms within [[ESR1]] and [[ESR2]] genes are associated with age at menarche in the Spanish population.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/18421025
|abstract=In the present study, the authors look at an association of genetic variants within estrogen synthesis and signaling pathways and age at menarche (AAM) in Spanish women. They analyzed 9 polymorphisms in 6 different genes in 714 well-characterized postmenopausal women from Spain. They performed a quantitative trait locus study of these markers individually or in digenic combinations in relation to AAM. None of the studied markers, with the exception of the follicle-stimulating hormone receptor (P = .013), were significantly associated with AAM in the Spanish population, and no marker demonstrated an association of statistical significance after multiple testing corrections (P > .0055). In contrast, linear regression analysis suggests epistatic interactions including [[ESR1]] and [[ESR2]] loci in relation to AAM in the series (P = .003). The results suggest that epistatic interactions of [[ESR1]] and [[ESR2]] alleles could be associated with advancing AAM among Spanish women.
|mesh-terms=* Adolescent
* Age Factors
* Aged
* Aging
* Child
* Epistasis, Genetic
* Estrogen Receptor alpha
* Estrogen Receptor beta
* Estrogens
* Female
* Gene Frequency
* Genotype
* Humans
* Logistic Models
* Menarche
* Middle Aged
* Phenotype
* Polymorphism, Genetic
* Postmenopause
* Signal Transduction
* Spain

|full-text-url=https://sci-hub.do/10.1177/1933719107314064
}}
{{medline-entry
|title=Estrogen receptor genotype and risk of cognitive impairment in elders: findings from the Health ABC study.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/17889406
|abstract=To determine whether variants in the estrogen receptors 1 (alpha) and 2 (beta) ([[ESR1]] and [[ESR2]]) genes are associated with cognitive impairment in non-demented elderly men and women. Several single nucleotide polymorphisms (SNPs) on [[ESR1]] and [[ESR2]] genes have been associated with a range of hormone sensitive diseases such as breast cancer and osteoporosis. Genetic variations in ESR may also influence cognitive aging but are less studied, especially among men. We studied 2527 participants enrolled in an ongoing prospective study of community-dwelling elders. Four SNPs from [[ESR1]] and four from [[ESR2]] were analyzed. We measured cognitive function with the Modified Mini-Mental Status Examination (3MS) at baseline and biannually; cognitive impairment was defined as a decline of five or more points over 4 years. We calculated odds of developing cognitive impairment across SNPs using gender-stratified logistic regression and adjusted analyses for age, education, baseline 3MS score and in addition for race. One thousand three hundred and forty-three women (mean age 73.4) and 1184 men (mean age 73.7) comprised our cohort. Among women, after multivariate adjustment, two of the [[ESR1]] SNPs (rs8179176, rs9340799) and two of the [[ESR2]] SNPs (rs1256065, rs1256030) were associated with likelihood of developing cognitive impairment, although the association for rs8179176 was of trend level significance. In men, one of the [[ESR1]] SNPs (rs728524) and two of the [[ESR2]] (rs1255998, rs1256030) were associated with cognitive impairment. Further adjustment for race attenuated the results somewhat. There was no association between any ESR SNP and level of bioavailable estradiol but testosterone level did vary among two of the SNPs (p<0.05). We found that among non-demented community elders, several SNPs in the [[ESR1]] and [[ESR2]] genes were associated with risk of developing cognitive impairment. These findings suggest that estrogen receptor genetic variants may play a role in cognitive aging.
|mesh-terms=* Aged
* Aging
* Brain
* Cognition Disorders
* Cohort Studies
* Cytoprotection
* DNA Mutational Analysis
* Estrogen Receptor beta
* Estrogens
* Female
* Genetic Predisposition to Disease
* Genetic Testing
* Genotype
* Humans
* Male
* Polymorphism, Single Nucleotide
* Predictive Value of Tests
* Prognosis
* Prospective Studies
* Receptors, Estrogen
* Risk Factors

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2826192
}}
{{medline-entry
|title=Ontogeny of androgen and estrogen receptor expression in porcine testis: effect of reducing testicular estrogen synthesis.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/17157457
|abstract=Reducing endogenous estrogen leads to increased proliferation of porcine Sertoli cells during the first 2 months of life. The resulting increase in porcine Sertoli cell numbers is maintained through puberty. The reduced estrogen appears to be the direct hormonal mediator because essentially no changes are observed in other hormones. However, the mechanism for this effect on Sertoli cell proliferation is unknown. The objective of these studies was to evaluate estrogen receptors alpha and beta ([[ESR1]] and [[ESR2]]) in conjunction with androgen receptor ([[AR]]) on Sertoli cells and other testicular cell types, as an initial step toward understanding how reduced estrogen leads to increased Sertoli cell numbers. Testis sections from treated animals (aromatase inhibition to decrease endogenous estrogen beginning at 1 week of age) and from littermate controls treated with vehicle were subjected to immunocytochemical labeling for [[ESR1]], [[ESR2]], and [[AR]]. Three observers scored Sertoli cells, interstitial cells, peritubular myoid cells, and germ cells for intensity of labeling (0: absent; 1 : weak; 2 : moderate; or 3 : strong labeling). [[AR]] in Sertoli cells was readily detected at 1 week of age, was very faint in 2-month vehicle controls, and labeling appeared to increase in 3-month vehicle controls. [[AR]] in Sertoli cells, interstitial cells, and apparently germ cells was increased in treated animals at 2 months of age compared with the vehicle controls. This increase was confirmed in western blots. [[ESR1]] and ESR 2 were clearly present in Sertoli cells from 1-week-old animals; ESR in Sertoli cells generally decreased with age with the decrease more apparent for [[ESR2]]. [[ESR1]] in Sertoli cells and peritubular myoid cells exhibited some treatment-related effects but reduction of endogenous estrogen did not appear to affect [[ESR2]] in the boar testis. The observed alterations in [[AR]] and [[ESR1]] may mediate the increases in Sertoli cell proliferation following inhibition of endogenous estrogen production or may reflect the altered function of the Sertoli cells and peritubular myoid cells.
|mesh-terms=* Aging
* Animals
* Aromatase Inhibitors
* Blotting, Western
* Estrogen Receptor alpha
* Estrogen Receptor beta
* Estrogens
* Immunohistochemistry
* Letrozole
* Male
* Nitriles
* Receptors, Androgen
* Sertoli Cells
* Swine
* Testis
* Triazoles

|full-text-url=https://sci-hub.do/10.1016/j.anireprosci.2006.10.025
}}