{{Rsnum
|rsid=9340799
|Gene=ESR1
|Chromosome=6
|position=151842246
|Orientation=plus
|GMAF=0.2557
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=Estrogen Receptor 1 polymorphism
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ESR1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 49.2 | 42.4 | 8.5
| HCB | 65.0 | 25.0 | 10.0
| JPT | 71.1 | 24.4 | 4.4
| YRI | 64.4 | 32.2 | 3.4
| ASW | 0.0 | 0.0 | 0.0
| CHB | 65.0 | 25.0 | 10.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}[[rs9340799]] is a SNP in the estrogen alpha receptor [[ESR1]] gene, and it is also known as the -351A>G variant.

{{PMID|17889406|OA=1
}}
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|18990228|OA=1
}} 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.

{{ neighbor
| rsid = 8179176
| distance = 47
}}
{{ neighbor
| rsid = 2234693
| 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=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=9340799
}}
{{PMID Auto
|PMID=19032032
|Title=Associations of the estrogen receptors 1 and 2 gene polymorphisms with the metabolic syndrome in women
|OA=1
}}

{{PharmGKB
|RSID=rs9340799
|Name_s=ESR1:c.454-351A>G; ESR1:XbaI; ESR1:rs9340799
|Gene_s=ESR1
|Feature=Intron
|Evidence=PubMed ID:17713466
|Annotation=SNP is associated with tamoxifen-induced changes in total cholesterol and triglycerides in postmenopausal woman.
|Drugs=tamoxifen
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161615654
}}

{{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
}}

{{PharmGKB
|RSID=rs9340799
|Name_s=ESR1:c.454-351A>G; ESR1:XbaI; ESR1:rs9340799
|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=PA161145052
}}

{{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=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=22383897
|Title=Genome-Wide Association Study in East Asians Identifies Novel Susceptibility Loci for Breast Cancer
|OA=1
}}

{{PMID Auto
|PMID=22457817
|Title=Hormone Treatment, Estrogen Receptor Polymorphisms and Mortality: A Prospective Cohort Study
|OA=1
}}

{{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 Auto
|PMID=22808109
|Title=Significant Role of Estrogen and Progesterone Receptor Sequence Variants in Gallbladder Cancer Predisposition: A Multi-Analytical Strategy
|OA=1
}}

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

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

{{PMID Auto
|PMID=16203927
|Title=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 Auto
|PMID=16551651
|Title=The association of oestrogen receptor alpha-haplotypes with cardiovascular risk factors in the British Women's Heart and Health Study.
}}

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

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

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

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

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

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

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

{{PMID Auto
|PMID=17409042
|Title=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 Auto
|PMID=17540666
|Title=Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization.
}}

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

{{PMID Auto
|PMID=17903300
|Title=Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.
|OA=1
}}

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

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

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

{{PMID Auto
|PMID=18305958
|Title=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.
|OA=1
}}

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

{{PMID Auto
|PMID=18424448
|Title=Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.
|OA=1
}}

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

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

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

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

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

{{PMID Auto
|PMID=18992263
|Title=Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.
|OA=1
}}

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

{{PMID Auto
|PMID=19087310
|Title=Microarray-based estimation of SNP allele-frequency in pooled DNA using the Langmuir kinetic model.
|OA=1
}}

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

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

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

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

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

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

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

{{PMID Auto
|PMID=19630952
|Title=Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.
|OA=1
}}

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

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

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

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

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

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

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

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

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

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

{{PMID Auto
|PMID=21520258
|Title=Replication study of the association between adolescent idiopathic scoliosis and two estrogen receptor genes.
}}

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

{{PMID Auto
|PMID=21691901
|Title=Potential genetic markers predicting the outcome of brace treatment in patients with adolescent idiopathic scoliosis.
|OA=1
}}

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

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

{{PMID Auto
|PMID=22228197
|Title=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 Auto
|PMID=22311020
|Title=Evaluation of ERalpha and VDR gene polymorphisms in relation to bone mineral density in Turkish postmenopausal women.
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs9340799
|overall_frequency_n=36
|overall_frequency_d=128
|overall_frequency=0.28125
|n_genomes=22
|n_genomes_annotated=0
|n_haplomes=26
|n_articles=1
|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
}}

[[Endometriosis]]

[[Uterine Fibroids]]

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

{{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=24859835
|Title=The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate cancer risk
}}

{{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 | FTDNA2}}
{{on chip | FTDNA}}