rs2070744
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0.1 | increased prostate cancer risk |
| (C;T) | None | |
| (T;T) | 2.1 | cardiovascular differences |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 150992991 |
| Gene | NOS3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2070744 |
| dbSNP (classic) | rs2070744 |
| ClinGen | rs2070744 |
| ebi | rs2070744 |
| HLI | rs2070744 |
| Exac | rs2070744 |
| Gnomad | rs2070744 |
| Varsome | rs2070744 |
| LitVar | rs2070744 |
| Map | rs2070744 |
| PheGenI | rs2070744 |
| Biobank | rs2070744 |
| 1000 genomes | rs2070744 |
| hgdp | rs2070744 |
| ensembl | rs2070744 |
| geneview | rs2070744 |
| scholar | rs2070744 |
| rs2070744 | |
| pharmgkb | rs2070744 |
| gwascentral | rs2070744 |
| openSNP | rs2070744 |
| 23andMe | rs2070744 |
| SNPshot | rs2070744 |
| SNPdbe | rs2070744 |
| MSV3d | rs2070744 |
| GWAS Ctlg | rs2070744 |
| GMAF | 0.2571 |
| Max Magnitude | 2.1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
The NOS3 gene encodes nitric oxide synthase 3, and is also known as eNOS; rs2070744 is a SNP in the promoter region that is associated with higher levels of the corresponding mRNA (and possibly protein).
Associations for the risk allele (C) of this SNP include:
- Rheumatoid Arthritis [PMID 17009241], and,
- cardiovascular mortality in high-risk patients [PMID 16979000]
- Progression (but not occurence) of prostate cancer [PMID 18823560
]
[PMID 19155013] Men who carry the C allele responded more favorably to the antihypertensive effects of aerobic exercise
Current HapMap data for this SNP appears wrong (ss42994451). The population diversity information is instead being estimated based on ss48295994 P1, and should be replaced what a new HapMap ss# is available.
[PMID 19435423] Lack of Association Between Matrix Metalloproteinase-9 and Endothelial Nitric Oxide Synthase Gene Polymorphisms and Coronary Artery Disease in Turkish Population
[PMID 19701646] The -786 T/C polymorphism of the NOS3 gene is associated with elite performance in power sports
[PMID 19815736
] The Relation between Endothelial Nitric Oxide Synthase Gene Variants and Primary Open-Angle Glaucoma: Interactions with Gender and Postmenopausal Hormone Use
[PMID 19853644] Promoter polymorphisms of the NOS3 gene are associated with hypnotizability-dependent vascular response to nociceptive stimulation
[PMID 20406466] Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey
[PMID 20565909] Frequency of eNOS polymorphisms in the Colombian general population
[PMID 21293869] Influence of endothelial nitric oxide synthase polymorphisms in psoriasis risk
[PMID 21886581] Genetic Association Analysis of NOS3 and Methamphetamine-Induced Psychosis Among Japanese
[PMID 21968727] Association of eNOS gene polymorphisms with essential hypertension in the Han population in southwestern China
[PMID 22025889] Reproductive factors and NOS3 variant interactions in primary open-angle glaucoma
[PMID 22031268] Three polymorphisms of the eNOS gene and plasma levels of metabolites of nitric oxide in depressed Japanese patients: a preliminary report
[PMID 20459474] Can we predict top-level sports performance in power vs endurance events? A genetic approach
[PMID 22470539] Pharmacogenetic Association of NOS3 Variants with Cardiovascular Disease in Patients with Hypertension: The GenHAT Study
[PMID 16820586] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.
[PMID 17367796] Association of polymorphisms in NOS3 with the ankle-brachial index in hypertensive adults.
[PMID 17579350] NOS-I and -III gene variants are differentially associated with facets of suicidal behavior and aggression-related traits.
[PMID 17605790] Lack of association between endothelial nitric oxide synthase (NOS3) gene polymorphisms and suicide attempts.
[PMID 17980690] Polymorphisms in the endothelial nitric oxide synthase gene and bone density/ultrasound and geometry in humans.
[PMID 18246059] Habitual energy expenditure modifies the association between NOS3 gene polymorphisms and blood pressure.
[PMID 18279468] Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.
[PMID 18506375] Association of genetic variants with atherothrombotic cerebral infarction in Japanese individuals with metabolic syndrome.
[PMID 18698231] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
[PMID 18776599] Susceptibility genes for gentamicin-induced vestibular dysfunction.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19132956] A common variant of the eNOS gene (E298D) is an independent risk factor for left ventricular hypertrophy in human essential hypertension.
[PMID 20204503] The association between two polymorphisms of eNOS and breast cancer risk: a meta-analysis.
[PMID 20457799] Effects of eNOS polymorphisms on nitric oxide formation in healthy pregnancy and in pre-eclampsia.
[PMID 21332392] Endothelial nitric oxide synthase haplotypes associated with aura in patients with migraine.
[PMID 21577011] NCAM1, TACR1 and NOS genes and temperament: a study on suicide attempters and controls.
[PMID 21703358] Polymorphisms in nitric-oxide synthase 3 may influence the risk of urinary-bladder cancer.
[PMID 22064666] Endothelial nitric oxide synthase genotypes and haplotypes modify the responses to sildenafil in patients with erectile dysfunction.
[PMID 22325930] Correlates of endothelial function and the peak systolic blood pressure response to a graded maximal exercise test.
[PMID 22919264] No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients
[PMID 23122309] The relationship between polymorphisms at 17 gene sites and hypertension among the Aboriginal Tibetan people
[PMID 23681449] Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way
[PMID 24035903] The -974 C>A (rs3087459) gene polymorphism in the endothelin gene (EDN1) is associated with risk of developing acute coronary syndrome in Mexican patients
[PMID 22499569] The C allele in NOS3 -786 T/C polymorphism is associated with elite soccer player's status.
[PMID 22865486] Interaction among nitric oxide (NO)-related genes in migraine susceptibility.
[PMID 23062210] eNOS tag SNP haplotypes in hypertensive disorders of pregnancy.
[PMID 23176758] Association of nitric oxide synthase gene polymorphisms (-786T>C, 4a4b, 894G>T) with primary ovarian insufficiency in Korean women.
[PMID 23333443] Analysis of polymorphisms and haplotypes in genes associated with vascular tone, hypertension and oxidative stress in Mexican-Mestizo women with severe preeclampsia.
[PMID 23826716] Association analysis of nitric oxide synthases: NOS1, NOS2A and NOS3 genes, with multiple sclerosis.
[PMID 24047197] Endothelial nitric oxide synthase gene variants and haplotypes associated with an increased risk of idiopathic recurrent miscarriage
[PMID 24870799] Nitric oxide synthase 3 gene variants and colorectal cancer: a meta-analysis
[PMID 24085449] Polymorphisms in the endothelial nitric oxide synthase gene associated with recurrent miscarriage
[PMID 24938467] Genetic variants of the endothelial NO synthase gene (eNOS) may confer increased risk of sporadic congenital heart disease
[PMID 24940036] Endothelial nitric oxide synthase polymorphisms and susceptibility to high-tension primary open-angle glaucoma in an Egyptian cohort
[PMID 24972130] Association of the NOS3 intron-4 VNTR polymorphism with aneurysmal subarachnoid hemorrhage
[PMID 25140814] Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy
[PMID 25164276] Genetic Variants within Endothelial Nitric Oxide Synthase Gene and Prostate Cancer: A Meta-Analysis
| ClinVar | |
|---|---|
| Risk | Rs2070744(T;T) |
| Alt | Rs2070744(T;T) |
| Reference | Rs2070744(C;C) |
| Significance | Other |
| Disease | Coronary artery spasm 1 |
| Variation | info |
| Gene | NOS3 |
| CLNDBN | Coronary artery spasm 1, susceptibility to |
| Reversed | 0 |
| HGVS | NC_000007.13:g.150690079C\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015059.2, |
[PMID 26231489] Current Progress in Sports Genomics
[PMID 27242919] Association of Common Variants in eNOS Gene with Primary Open Angle Glaucoma: A Meta-Analysis.
[PMID 28070505] The Association between NOS3 Gene Polymorphisms and Hypoxic-Ischemic Encephalopathy Susceptibility and Symptoms in Chinese Han Population.
[PMID 28254540] Endothelial nitric oxide synthase polymorphism is associated with delayed cerebral ischemia following aneurysmal subarachnoid hemorrhage.
[PMID 28474840] COX2 and NOS3 gene polymorphisms in women with gestational diabetes.
[PMID 29079038] The role of endothelial nitric oxide synthase -786 T/C polymorphism in cardiac instability following aneurysmal subarachnoid hemorrhage.
[PMID 31258766] Involvement of endothelial nitric oxide synthase gene variants in the aggressiveness of uterine cervical cancer.
[PMID 31792366] Association between endothelial nitric oxide synthase (NOS3) rs2070744 and the risk for migraine.
[PMID 32314287] Investigation of the association of endothelial nitric oxide synthase (eNOS)-T786C gene polymorphism with the risk of male infertility in an Iranian population.
[PMID 32449012] Endothelial nitric oxide synthase (NOS3) rs2070744 polymorphism and risk for multiple sclerosis.
