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rs9340799

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Estrogen Receptor 1 polymorphism
Orientationplus
Stabilizedplus
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
Chromosome6
Position151842246
GeneESR1
is asnp
is mentioned by
dbSNPrs9340799
ebirs9340799
HLIrs9340799
Exacrs9340799
Varsomers9340799
Maprs9340799
PheGenIrs9340799
hapmaprs9340799
1000 genomesrs9340799
hgdprs9340799
ensemblrs9340799
gopubmedrs9340799
geneviewrs9340799
scholarrs9340799
googlers9340799
pharmgkbrs9340799
gwascentralrs9340799
openSNPrs9340799
23andMers9340799
23andMe allrs9340799
SNP Nexus

SNPshotrs9340799
SNPdbers9340799
MSV3drs9340799
GWAS Ctlgrs9340799
GMAF0.2557
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.

Neighborrs8179176
Distance47
Neighborrs2234693
Distance46


[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

OMIM133430
DescESTROGEN RECEPTOR 1; ESR1
Variant
Relatedalso
[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 22009847] 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.


GET Evidence
rs9340799
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.28125
summary



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

Endometriosis

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


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