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From SNPedia

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ReferenceGRCh38 38.1/141
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? (C;C) (C;T) (T;T) 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 18424448OA-icon.png] 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).


[PMID 19298602] Isoflavone, polymorphisms in estrogen receptor genes and breast cancer risk in case-control studies in Japanese, Japanese Brazilians and non-Japanese Brazilians.

[PMID 19321582] 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 19386276] A functional polymorphism in estrogen receptor alpha gene is associated with Japanese methamphetamine induced psychosis

[PMID 19473078] Estrogen receptor Beta gene variant is associated with vascular dementia in elderly women

[PMID 19082882] Estrogen receptor genotype is associated with risk of venous thromboembolism during tamoxifen therapy

[PMID 19386104OA-icon.png] Age-specific effects of estrogen receptors' polymorphisms on the bone traits in healthy fertile women: the BONTURNO study

[PMID 19032032OA-icon.png] Associations of the estrogen receptors 1 and 2 gene polymorphisms with the metabolic syndrome in women

[PMID 19608186] 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 19630952OA-icon.png] Sex steroid metabolism polymorphisms and mammographic density in pre- and early peri-menopausal women

[PMID 19673915] Role of the oestrogen receptor (ESR1 PvuII and ESR1 325 C-->G) and progesterone receptor (PROGINS) polymorphisms in genetic susceptibility to migraine in a North Indian population

[PMID 20046055] Association of the G2014G genotype in estrogen receptor 1 gene with failure of the mifepristone-induced termination of early pregnancy

[PMID 20095908] Estrogen Receptor-1 Genetic Polymorphisms for the Risk of Premature Ovarian Failure and Early Menopause

[PMID 20383761] Estrogen Receptor Alpha Polymorphisms and the Risk of Malignancies

[PMID 20172949OA-icon.png] Polymorphisms of estrogen receptors and risk of biliary tract cancers and gallstones: a population-based study in Shanghai, China

[PMID 20586553] Polymorphisms in ESR1, ESR2 and HSD17B1 genes are associated with fertility status in endometriosis

[PMID 20674091] Estrogen receptor alpha gene variants are associated with Alzheimer's disease

[PMID 20429621] Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer

[PMID 21445546] Analysis of estrogen receptor alpha gene haplotype in Mexican mestizo patients with primary osteoarthritis of the knee

[PMID 21528353] Genetic variants of 6q25 and breast cancer susceptibility: a two-stage fine mapping study in a Chinese population

[PMID 22051074] Estrogen receptor alpha gene variants and major depressive episodes

[PMID 22009847] Association between adolescent idiopathic scoliosis with double curve and polymorphisms of calmodulin1 gene/estrogen receptor-? gene

[PMID 22511967OA-icon.png] Potential Role of Aromatase over Estrogen Receptor Gene Polymorphisms in Migraine Susceptibility: A Case Control Study from North India

[PMID 15217512OA-icon.png] 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 16504171OA-icon.png] 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 17903296OA-icon.png] Genome-wide association with bone mass and geometry in the Framingham Heart Study.

[PMID 18053221OA-icon.png] Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis--a cohort study.

[PMID 18159244OA-icon.png] Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.

[PMID 18271972OA-icon.png] ESR1 and EGF genetic variation in relation to breast cancer risk and survival.

[PMID 18285546OA-icon.png] A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group.

[PMID 18305958OA-icon.png] 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 18350145OA-icon.png] 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 18408366OA-icon.png] Estrogen receptor-alpha variants increase risk of Alzheimer's disease in women with Down syndrome.

[PMID 18445666OA-icon.png] Variation in estrogen-related genes associated with cardiovascular phenotypes and circulating estradiol, testosterone, and dehydroepiandrosterone sulfate levels.

[PMID 18450649OA-icon.png] ESR1 polymorphism is associated with plasma lipid and apolipoprotein levels in Caucasians of the Rochester Family Heart Study.

[PMID 18579753OA-icon.png] Vascular actions of estrogens: functional implications.

[PMID 18592033OA-icon.png] Sex steroid-related candidate genes in psychiatric disorders.

[PMID 18603647OA-icon.png] 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 18728166OA-icon.png] Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche.

[PMID 18787887OA-icon.png] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.

[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 18990228OA-icon.png] 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 19126777OA-icon.png] Association of ESR1 gene tagging SNPs with breast cancer risk.

[PMID 19194457OA-icon.png] 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 19219042OA-icon.png] Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.

[PMID 19319135OA-icon.png] Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival.

[PMID 19375130OA-icon.png] 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 19654868OA-icon.png] 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 19884274OA-icon.png] 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 19934104OA-icon.png] Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations.

[PMID 20015871OA-icon.png] 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 20732949OA-icon.png] Gender-specific reduction of estrogen-sensitive small RNA, miR-30b, in subjects with schizophrenia.

[PMID 20846920OA-icon.png] 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 21106711OA-icon.png] 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 21262040OA-icon.png] 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 21804148OA-icon.png] 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 22995348] 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
overall_frequency 0.421875

[PMID 23098495] Variants on ESR1 and their Association with Prostate Cancer Risk: A Meta-analysis

[PMID 23450473] [Association between ESR1 gene polymorphisms and haplotypes with schizophrenia]

[PMID 23471591OA-icon.png] 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

[PMID 23491264] Estrogen receptor polymorphisms and incident dementia: The prospective 3C study

[PMID 23686919] Impact of polymorphisms in the oestrogen receptors alpha and beta (ESR1, ESR2) genes on risk of vasculogenic erectile dysfunction

[PMID 24427778OA-icon.png] ESR1 rs9340799 is associated with endometriosis-related infertility and in vitro fertilization failure

[PMID 24430361] Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: a case control study from North India

[PMID 24482673OA-icon.png] Association between Estrogen Receptor α Gene (ESR1) PvuII (C/T) and XbaI (A/G) Polymorphisms and Hip Fracture Risk: Evidence from a Meta-Analysis

[PMID 23245353] Association of estrogen receptor alpha gene polymorphisms with autonomic modulation of heart rate in users and nonusers of oral contraceptives

[PMID 22633539OA-icon.png] Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.

[PMID 22807154] Susceptibility genes for osteoporotic fracture in postmenopausal Chinese women.

[PMID 22901010] Polymorphisms of estrogen receptors and risk of depression: therapeutic implications.

[PMID 23072920OA-icon.png] Genetic markers of bone and joint health and physical capability in older adults: the HALCyon programme.

[PMID 23352976] Polymorphisms in genes encoding aquaporins 4 and 5 and estrogen receptor alpha in patients with Meniere's disease and sudden sensorineural hearing loss.

[PMID 24772998] Genetic Polymorphisms in the ESR1 Gene and Cerebral Infarction Risk: A Meta-Analysis

[PMID 25014269] 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 25128001OA-icon.png] Polymorphisms in estrogen receptors predict the risk of male infertility: a meta-analysis

[PMID 25428437] Association between estrogen receptora gene (ESR1) PvuII (T/C) and XbaI (A/G) polymorphisms and premature ovarian failure risk: evidence from a meta-analysis

[PMID 24150894] Sex and ESR1 genotype may influence the response to treatment with donepezil and rivastigmine in patients with Alzheimer's disease

[PMID 25782960] Association between polymorphisms in the estrogen receptor alpha gene and osteoarthritis susceptibility: a meta-analysis

[PMID 26434778] Association Between ESR1 PvuII, XbaI, and P325P Polymorphisms and Breast Cancer Susceptibility: A Meta-Analysis

[PMID 26550281] Genetic effects of common polymorphisms in estrogen receptor alpha gene on osteoarthritis: a meta-analysis