{{Rsnum
|rsid=2234693
|Gene=ESR1
|Chromosome=6
|position=151842200
|Orientation=plus
|GMAF=0.4362
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ESR1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 15.0 | 51.3 | 33.6
| HCB | 20.4 | 41.6 | 38.0
| JPT | 17.7 | 48.7 | 33.6
| YRI | 25.2 | 55.1 | 19.7
| ASW | 29.8 | 49.1 | 21.1
| CHB | 20.4 | 41.6 | 38.0
| CHD | 18.3 | 45.9 | 35.8
| GIH | 12.9 | 50.5 | 36.6
| LWK | 32.7 | 52.7 | 14.5
| MEX | 6.9 | 44.8 | 48.3
| MKK | 22.6 | 50.3 | 27.1
| TSI | 7.8 | 49.0 | 43.1
| HapMapRevision=28
}}[[rs2234693]] is a SNP upstream of the estrogen alpha receptor [[ESR1]] gene, and is sometimes referred to as the -397T>C variation.

{{PMID|17540666}} [[rs2234693]] [[rs9340799]] and [[rs1256049]] variations in ESR1 gene, in addition to the age of a woman, may predict the COH outcome in [[in vitro fertilization]]

{{PMID|18309176}} A study of 6,200+ Dutch individuals did not replicate previously reported associations between this SNP ([[rs2234693]]) and risk of ischemic [[stroke]]

{{PMID|18424448|OA=1
}} [[rs2234693]](C;C)more frequent in African American schizophrenics (p=0.01 to 0.001). 
haplotype less common in [[schizophrenia]] [[rs2273206]](T), [[rs2273207]](G), [[rs2228480]](G). 

{{ neighbor
| rsid = 8179176
| distance = 1
}}
{{ neighbor
| rsid = 9340799
| distance = 46
}}

{{PMID Auto
|PMID=19298602
|Title=Isoflavone, polymorphisms in estrogen receptor genes and breast cancer risk in case-control studies in Japanese, Japanese Brazilians and non-Japanese Brazilians.
}}
{{PMID Auto
|PMID=19321582
|Title=The Protective Association of High Plasma Enterolactone with Breast Cancer Is Reasonably Robust in Women with Polymorphisms in the Estrogen Receptor {alpha} and {beta} Genes.
}}

{{PMID Auto
|PMID=19386276
|Title=A functional polymorphism in estrogen receptor alpha gene is associated with Japanese methamphetamine induced psychosis
}}
{{PMID Auto
|PMID=19473078
|Title=Estrogen receptor Beta gene variant is associated with vascular dementia in elderly women
}}

{{PMID Auto
|PMID=19082882
|Title=Estrogen receptor genotype is associated with risk of venous thromboembolism during tamoxifen therapy
}}
{{PMID Auto
|PMID=19386104
|Title=Age-specific effects of estrogen receptors' polymorphisms on the bone traits in healthy fertile women: the BONTURNO study
|OA=1
}}

{{omim
|desc=ESTROGEN RECEPTOR 1; ESR1
|id=133430
|rsnum=2234693
}}
{{PMID Auto
|PMID=19032032
|Title=Associations of the estrogen receptors 1 and 2 gene polymorphisms with the metabolic syndrome in women
|OA=1
}}
{{PMID Auto
|PMID=19608186
|Title=Qualitative assessment of previous evidence and an updated meta-analysis confirms lack of association between the ESR1 rs2234693 (PvuII) variant and coronary heart disease in men and women
}}
{{PMID Auto
|PMID=19630952
|Title=Sex steroid metabolism polymorphisms and mammographic density in pre- and early peri-menopausal women
|OA=1
}}
{{PMID Auto
|PMID=19673915
|Title=Role of the oestrogen receptor (ESR1 PvuII and ESR1 325 C--&gt;G) and progesterone receptor (PROGINS) polymorphisms in genetic susceptibility to migraine in a North Indian population
}}

{{PharmGKB
|RSID=rs2234693
|Name_s=ESR1:c.454-397T>C; ESR1:PvuII; ESR1:rs2234693
|Gene_s=ESR1
|Feature=Intron
|Evidence=PubMed ID:16144952; PubMed ID:16762623; PubMed ID:17350824; PubMed ID:17372038; PubMed ID:17510501
|Annotation=Well studied, both positive and negative associations with several phenotypes.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145051
}}
{{PMID Auto
|PMID=20046055
|Title=Association of the G2014G genotype in estrogen receptor 1 gene with failure of the mifepristone-induced termination of early pregnancy
}}

{{PMID Auto
|PMID=20095908
|Title=Estrogen Receptor-1 Genetic Polymorphisms for the Risk of Premature Ovarian Failure and Early Menopause
}}

{{PMID Auto
|PMID=20383761
|Title=Estrogen Receptor Alpha Polymorphisms and the Risk of Malignancies
}}
{{PMID Auto
|PMID=20172949
|Title=Polymorphisms of estrogen receptors and risk of biliary tract cancers and gallstones: a population-based study in Shanghai, China
|OA=1
}}
{{PMID Auto
|PMID=20586553
|Title=Polymorphisms in ESR1, ESR2 and HSD17B1 genes are associated with fertility status in endometriosis
}}
{{PMID Auto
|PMID=20674091
|Title=Estrogen receptor alpha gene variants are associated with Alzheimer's disease
}}
{{PMID Auto
|PMID=20429621
|Title=Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer
}}

{{PMID Auto
|PMID=21445546
|Title=Analysis of estrogen receptor alpha gene haplotype in Mexican mestizo patients with primary osteoarthritis of the knee
}}

{{PMID Auto
|PMID=21528353
|Title=Genetic variants of 6q25 and breast cancer susceptibility: a two-stage fine mapping study in a Chinese population
}}

{{PMID Auto
|PMID=22051074
|Title=Estrogen receptor alpha gene variants and major depressive episodes
}}

{{PMID Auto
|PMID=22009847
|Title=Association between adolescent idiopathic scoliosis with double curve and polymorphisms of calmodulin1 gene/estrogen receptor-? gene
}}

{{PMID Auto
|PMID=22511967
|Title=Potential Role of Aromatase over Estrogen Receptor Gene Polymorphisms in Migraine Susceptibility: A Case Control Study from North India
|OA=1
}}

{{PMID|15217512|OA=1
}} Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study.

{{PMID|15523071}} Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes.

{{PMID|16179580}} Estrogen receptor alpha gene variation and the risk of stroke.

{{PMID|16203927}} No replication of association between estrogen receptor alpha gene polymorphisms and susceptibility to myocardial infarction in a large sample of patients of European descent.

{{PMID|16504171|OA=1
}} No role for estrogen receptor 1 gene intron 1 Pvu II and exon 4 C325G polymorphisms in migraine susceptibility.

{{PMID|16551651}} The association of oestrogen receptor alpha-haplotypes with cardiovascular risk factors in the British Women's Heart and Health Study.

{{PMID|16949384}} Endogenous estradiol and its association with estrogen receptor gene polymorphisms.

{{PMID|16949387}} Menstrual cycle markers of ovarian aging and sex steroid hormone genotypes.

{{PMID|16949390}} Sex steroid hormone polymorphisms, high-density lipoprotein cholesterol, and apolipoprotein A-1 from the Study of Women's Health Across the Nation (SWAN).

{{PMID|16949392}} The association of bone mineral density with estrogen receptor gene polymorphisms.

{{PMID|16949394}} Cognitive functioning and sex steroid hormone gene polymorphisms in women at midlife.

{{PMID|17105837}} Estrogen receptor alpha regulates area-adjusted bone mineral content in late pubertal girls.

{{PMID|17268813}} Estrogen receptor alpha haplotypes and breast cancer risk in older Caucasian women.

{{PMID|17405848}} Effect of an estrogen receptor-alpha intron 4 polymorphism on fat mass in 11-year-old children.

{{PMID|17409042}} Effects of the interaction between lean tissue mass and estrogen receptor alpha gene polymorphism on bone mineral density in middle-aged and elderly Japanese.

{{PMID|17903296|OA=1
}} Genome-wide association with bone mass and geometry in the Framingham Heart Study.

{{PMID|18053221|OA=1
}} Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis--a cohort study.

{{PMID|18159244|OA=1
}} Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.

{{PMID|18271972|OA=1
}} ESR1 and EGF genetic variation in relation to breast cancer risk and survival.

{{PMID|18285546|OA=1
}} A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group.

{{PMID|18305958|OA=1
}} Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population.

{{PMID|18350145|OA=1
}} Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts.

{{PMID|18385916}} Estrogen receptor alpha polymorphism is associated with pelvic organ prolapse risk.

{{PMID|18408366|OA=1
}} Estrogen receptor-alpha variants increase risk of Alzheimer's disease in women with Down syndrome.

{{PMID|18445666|OA=1
}} Variation in estrogen-related genes associated with cardiovascular phenotypes and circulating estradiol, testosterone, and dehydroepiandrosterone sulfate levels.

{{PMID|18450649|OA=1
}} ESR1 polymorphism is associated with plasma lipid and apolipoprotein levels in Caucasians of the Rochester Family Heart Study.

{{PMID|18579753|OA=1
}} Vascular actions of estrogens: functional implications.

{{PMID|18592033|OA=1
}} Sex steroid-related candidate genes in psychiatric disorders.

{{PMID|18603647|OA=1
}} Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

{{PMID|18619437}} MUC1 and estrogen receptor alpha gene polymorphisms in dry eye patients.

{{PMID|18728166|OA=1
}} Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche.

{{PMID|18787887|OA=1
}} Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.

{{PMID|18805939|OA=1
}} Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

{{PMID|18990228|OA=1
}} Estrogen receptor alpha gene polymorphism and endometrial cancer risk--a case-control study.

{{PMID|19080622}} [Is calmodulin 1 gene/estrogen receptor-alpha gene polymorphisms correlated with double curve pattern of adolescent idiopathic scoliosis?].

{{PMID|19126777|OA=1
}} Association of ESR1 gene tagging SNPs with breast cancer risk.

{{PMID|19194457|OA=1
}} Association between arterial stiffness and variations in oestrogen-related genes.

{{PMID|19200973}} Alleles and haplotypes of the estrogen receptor alpha gene are associated with an increased risk of spontaneous abortion.

{{PMID|19219042|OA=1
}} Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.

{{PMID|19319135|OA=1
}} Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival.

{{PMID|19375130|OA=1
}} Estrogen receptor 1 gene polymorphisms and decreased risk of obesity in women.

{{PMID|19438492}} Estrogen receptor polymorphisms and the risk of endometrial cancer.

{{PMID|19578917}} Association of ER-alpha gene polymorphism with metabolic phenotypes in Chinese Hans.

{{PMID|19654868|OA=1
}} Genetic polymorphisms of estrogen receptors alpha and beta and the risk of developing prostate cancer.

{{PMID|19760036}} Potentially functional polymorphisms in ESR1 and breast cancer risk: a meta-analysis.

{{PMID|19793653}} Oestrogen receptor alpha gene intronic polymorphisms and autoimmune myasthenia gravis in Caucasian women.

{{PMID|19884274|OA=1
}} The relationship of estrogen receptor-alpha and -beta genes with osteoarthritis of the hand.

{{PMID|19927160}} Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women.

{{PMID|19934104|OA=1
}} Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations.

{{PMID|20015871|OA=1
}} Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia.

{{PMID|20080857}} Endothelial function, but not carotid intima-media thickness, is affected early in menopause and is associated with severity of hot flushes.

{{PMID|20237151}} Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system.

{{PMID|20417295}} Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: a multicenter genetic and functional study.

{{PMID|20732949|OA=1
}} Gender-specific reduction of estrogen-sensitive small RNA, miR-30b, in subjects with schizophrenia.

{{PMID|20846920|OA=1
}} Selected estrogen receptor 1 and androgen receptor gene polymorphisms in relation to risk of breast cancer and fibrocystic breast conditions among Chinese women.

{{PMID|20961965}} Differential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and beta.

{{PMID|21106711|OA=1
}} Estrogen receptor alpha and aromatase polymorphisms affect risk, prognosis, and therapeutic outcome in men with castration-resistant prostate cancer treated with docetaxel-based therapy.

{{PMID|21262040|OA=1
}} Reported early family environment covaries with menarcheal age as a function of polymorphic variation in estrogen receptor-alpha.

{{PMID|21300759}} EGFR L858R mutation and polymorphisms of genes related to estrogen biosynthesis and metabolism in never-smoking female lung adenocarcinoma patients.

{{PMID|21570196}} Estrogen receptor gene variants are associated with anxiety disorders in older women.

{{PMID|21762042}} Oestrogen receptor polymorphisms in female patients with rheumatoid arthritis.

{{PMID|21804148|OA=1
}} Oestrogen receptor polymorphisms and late-life depression.

{{PMID|21837769}} A cis-acting regulatory variation of the estrogen receptor alpha (ESR1) gene is associated with hepatitis B virus-related liver cirrhosis.

{{PMID|22011627}} Genetic polymorphisms in estrogen receptors and sexual dimorphism in fat redistribution in HIV-infected patients on HAART.

{{PMID|22228197}} Estrogen receptors alpha (rs2234693 and rs9340799), and beta (rs4986938 and rs1256049) genes polymorphism in prostate cancer: Evidence for association with risk and histopathological tumor characteristics in Iranian men.

{{PMID|22311020}} Evaluation of ERalpha and VDR gene polymorphisms in relation to bone mineral density in Turkish postmenopausal women.

{{PMID|22324545}} Are polymorphisms in oestrogen receptors genes associated with lipid levels in response to hormone therapy?

{{PMID|22328322}} Interaction between ESRalpha polymorphisms and environmental factors in osteoporosis.

{{PMID Auto
|PMID=22995348
|Title=Genomic Diversity and Affinities in population groups of North West India: An analysis of Alu insertion and a single nucleotide polymorphism
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2234693
|overall_frequency_n=54
|overall_frequency_d=128
|overall_frequency=0.421875
|n_genomes=37
|n_genomes_annotated=0
|n_haplomes=45
|n_articles=0
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23098495
|Title=Variants on ESR1 and their Association with Prostate Cancer Risk: A Meta-analysis
}}

{{PMID Auto
|PMID=23450473
|Title=[Association between ESR1 gene polymorphisms and haplotypes with schizophrenia]
}}

{{PMID Auto
|PMID=23471591
|Title=Meta-analysis of the association of the rs2234693 and rs9340799 polymorphisms of estrogen receptor alpha gene with coronary heart disease risk in chinese han population
|OA=1
}}

{{PMID Auto
|PMID=23491264
|Title=Estrogen receptor polymorphisms and incident dementia: The prospective 3C study
}}

{{PMID Auto
|PMID=23686919
|Title=Impact of polymorphisms in the oestrogen receptors alpha and beta (ESR1, ESR2) genes on risk of vasculogenic erectile dysfunction
}}

{{PMID Auto
|PMID=24427778
|Title=ESR1 rs9340799 is associated with endometriosis-related infertility and in vitro fertilization failure
|OA=1
}}

{{PMID Auto
|PMID=24430361
|Title=Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: a case control study from North India
}}

{{PMID Auto
|PMID=24482673
|Title=Association between Estrogen Receptor α Gene (ESR1) PvuII (C/T) and XbaI (A/G) Polymorphisms and Hip Fracture Risk: Evidence from a Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=23245353
|Title=Association of estrogen receptor alpha gene polymorphisms with autonomic modulation of heart rate in users and nonusers of oral contraceptives
}}

{{PMID Auto
|PMID=22633539
|Title=Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.
|OA=1
}}

{{PMID Auto
|PMID=22807154
|Title=Susceptibility genes for osteoporotic fracture in postmenopausal Chinese women.
}}

{{PMID Auto
|PMID=22901010
|Title=Polymorphisms of estrogen receptors and risk of depression: therapeutic implications.
}}

{{PMID Auto
|PMID=23072920
|Title=Genetic markers of bone and joint health and physical capability in older adults: the HALCyon programme.
|OA=1
}}

{{PMID Auto
|PMID=23352976
|Title=Polymorphisms in genes encoding aquaporins 4 and 5 and estrogen receptor alpha in patients with Meniere's disease and sudden sensorineural hearing loss.
}}

{{PMID Auto
|PMID=24772998
|Title=Genetic Polymorphisms in the ESR1 Gene and Cerebral Infarction Risk: A Meta-Analysis
}}

{{PMID Auto
|PMID=25014269
|Title=Association of PvuII and XbaI polymorphisms in estrogen receptor alpha gene with the risk of hepatitis B virus infection in the Guangxi Zhuang population
}}

{{PMID Auto
|PMID=25128001
|Title=Polymorphisms in estrogen receptors predict the risk of male infertility: a meta-analysis
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}