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From SNPedia

Estrogen Receptor 1 polymorphism
Geno Mag Summary
(A;A) 2 Women have lower risk of Endometriosis but normal risk for Endometrial Cancer, and more cognitive impairment with age.
(A;G) 2 Women have normal (lower) risk of Endometriosis, 0.75x lower risk of Endometrial Cancer, and normal (higher) risk of cognitive impairment.
(G;G) 3 Women have 10x risk of Endometriosis, but half the risk of Endometrial Cancer and 0.76x less cognitive impairment.
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs9340799
1000 genomesrs9340799
GWAS Ctlgrs9340799
Max Magnitude3
? (A;A) (A;G) (G;G) 28

rs9340799 is a SNP in the estrogen alpha receptor ESR1 gene, and it is also known as the -351A>G variant.

[PMID 17889406OA-icon.png] Among women, rs8179176, rs9340799, rs1256065, and rs1256030 were associated with likelihood of developing cognitive impairment with ageing. In men, rs728524, rs1255998, and rs1256030 were associated with cognitive impairment.

[PMID 18309176] A study of 6,200+ Dutch individuals did not replicate previously reported associations between this SNP (rs9340799) and risk of ischemic stroke.

[PMID 18990228OA-icon.png] A study of 702 cases with invasive endometrial cancer concluded that the less common alleles of SNP rs9340799 lowered risk for the disease. The odds ratio was 0.75 (CI: 0.60-0.93) for (A;G) and 0.53 (CI: 0.37-0.77) for (G;G) compared to rs9340799(A;A) individuals.

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

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

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

[PMID 22383897OA-icon.png] Genome-Wide Association Study in East Asians Identifies Novel Susceptibility Loci for Breast Cancer

[PMID 22457817OA-icon.png] Hormone Treatment, Estrogen Receptor Polymorphisms and Mortality: A Prospective Cohort Study

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

[PMID 22808109OA-icon.png] Significant Role of Estrogen and Progesterone Receptor Sequence Variants in Gallbladder Cancer Predisposition: A Multi-Analytical Strategy

[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 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 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 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 17540666] Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization.

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

[PMID 17903300OA-icon.png] Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.

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

[PMID 18424448OA-icon.png] Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

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

[PMID 18992263OA-icon.png] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

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

[PMID 19087310OA-icon.png] Microarray-based estimation of SNP allele-frequency in pooled DNA using the Langmuir kinetic model.

[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 19630952OA-icon.png] Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.

[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 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 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 21520258] Replication study of the association between adolescent idiopathic scoliosis and two estrogen receptor genes.

[PMID 21570196] Estrogen receptor gene variants are associated with anxiety disorders in older women.

[PMID 21691901OA-icon.png] Potential genetic markers predicting the outcome of brace treatment in patients with adolescent idiopathic scoliosis.

[PMID 21762042] Oestrogen receptor polymorphisms in female patients with rheumatoid arthritis.

[PMID 21804148OA-icon.png] Oestrogen receptor polymorphisms and late-life depression.

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


Uterine Fibroids

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

[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 24859835] The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate cancer risk

[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 25428437OA-icon.png] 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 24825461OA-icon.png] Genetic influences on hand osteoarthritis in Finnish women--a replication study of candidate genes

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

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

[PMID 26590813OA-icon.png] ESR1 and ESR2 polymorphisms in the BIG 1-98 trial comparing adjuvant letrozole versus tamoxifen or their sequence for early breast cancer

[PMID 27825388OA-icon.png] Impact of CYP19A1 and ESR1 variants on early-onset side effects during combined endocrine therapy in the TEXT trial.

[PMID 28707126] Estrogen receptor alpha gene (ESR1) polymorphism and its interaction with smoking and drinking contribute to susceptibility of systemic lupus erythematosus.

[PMID 30113520OA-icon.png] ESR1 rs2234693 Polymorphism Is Associated with Muscle Injury and Muscle Stiffness.

[PMID 30537990OA-icon.png] ERα PvuII and XbaI polymorphisms in postmenopausal women with posterior tibial tendon dysfunction: a case control study.

[PMID 32682401OA-icon.png] Association of ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with Coronary Artery Disease (CAD).