{{Rsnum
|rsid=2070744
|Gene=NOS3
|Chromosome=7
|position=150992991
|Orientation=plus
|GMAF=0.2571
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=NOS3
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| 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
}}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,
* [[heart disease|cardiovascular mortality]] in high-risk patients {{PMID|16979000}}
* Progression (but not occurence) of [[prostate cancer]] {{PMID|18823560|OA=1
}}

{{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 Auto
|PMID=19435423
|Title=Lack of Association Between Matrix Metalloproteinase-9 and Endothelial Nitric Oxide Synthase Gene Polymorphisms and Coronary Artery Disease in Turkish Population
}}
{{PMID Auto
|PMID=19701646
|Title=The -786 T/C polymorphism of the NOS3 gene is associated with elite performance in power sports
}}
{{PMID Auto
|PMID=19815736
|Title=The Relation between Endothelial Nitric Oxide Synthase Gene Variants and Primary Open-Angle Glaucoma: Interactions with Gender and Postmenopausal Hormone Use
|OA=1
}}

{{PharmGKB
|RSID=rs2070744
|Name_s=NOS3:(-786)T>C, eNOS -786T>C, NOS3 -786T>C
|Gene_s=NOS3
|Feature=Intron
|Evidence=PubMed ID:19891529
|Annotation=Risk or phenotype-associated allele: C. Phenotype: Subjects carrying the eNOS 4a (no rs number; VNTR in intron 4) and -786C alleles had a significantly higher maximal platelet aggregation value after arachidonic acid (p = 0.02 and p = 0.047, respectively) Study size: 1442. Study population/ethnicity: acute coronary syndrome patients on dual antiplatelet therapy.
|Drugs=
|Drug Classes=
|Diseases=Acute coronary syndrome
|Curation Level=Curated
|PharmGKB Accession ID=PA165110506
}}
{{PMID Auto
|PMID=19853644
|Title=Promoter polymorphisms of the NOS3 gene are associated with hypnotizability-dependent vascular response to nociceptive stimulation
}}
{{PMID Auto
|PMID=20406466
|Title=Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey
|OA=1
}}
{{PMID Auto
|PMID=20565909
|Title=Frequency of eNOS polymorphisms in the Colombian general population
|OA=1
}}

{{PharmGKB
|RSID=rs2070744
|Name_s=NOS3:(-786)T>C
|Gene_s=NOS3
|Feature=Intron
|Evidence=PubMed ID:19671875
|Annotation=Risk or phenotype-associated allele: C. Phenotype: Women assigned to chemotherapy who had NOS3 &#8722;786 CC and 894 TT genotypes had an increased risk of recurrence compared with those with common alleles. Study size: 1153. Study population/ethnicity: Women with Breast Neoplasms receiving CMF (cyclophosphamide, methotrexate and fluorouracil) or CAF (cyclophosphamide, doxorubicin and fluorouracil) adjuvant therapy. Significance metric(s): HR = 2.32 (95% CI, 1.26-4.25); p = 0.008. Type of association: CO.
|Drugs=cyclophosphamide; doxorubicin; fluorouracil; methotrexate
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165291866
}}

{{PharmGKB
|RSID=rs2070744
|Name_s=NOS3:(-786)T>C, NOS3 -786T>C
|Gene_s=NOS3
|Feature=Intron
|Evidence=PubMed ID:16100023
|Annotation=Risk or phenotype-associated variant: T. Phenotype: The NOS3:(-786)T allele was more prevalent in cases than controls. It was also in strong linkage with NOS3:(-922)A. Study size: 125. Study population/ethnicity: Black women in the Stroke Prevention in Young Women case-control study. Significance metric(s): OR=2.9; 95% CI=1.3 to 6.4; p = 0.005. Type of association: CO.
|Drugs=
|Drug Classes=
|Diseases=Stroke
|Curation Level=Curated
|PharmGKB Accession ID=PA165110259
}}

{{PharmGKB
|RSID=rs2070744
|Name_s=NOS3:(-786)T>C, eNOS -786T>C, NOS3 -786T>C
|Gene_s=NOS3
|Feature=Intron
|Evidence=PubMed ID:19650939
|Annotation=In a study of Spanish Caucasian hypertensive patients, the T variant of NOS3:(-786)T>C was associated with response to treament whereas the CC genotype was more frequent in patients with resistant hypertension that was uncontrolled when treated with lifestyle measures and at least 3 antihypertensive drugs including an adequately dosed diuretic .
|Drugs=
|Drug Classes=ANTIHYPERTENSIVES; DIURETICS
|Diseases=Hypertension
|Curation Level=Curated
|PharmGKB Accession ID=PA165109823
}}

{{PMID Auto
|PMID=21293869
|Title=Influence of endothelial nitric oxide synthase polymorphisms in psoriasis risk
}}

{{PMID Auto
|PMID=21886581
|Title=Genetic Association Analysis of NOS3 and Methamphetamine-Induced Psychosis Among Japanese
|OA=1
}}

{{PMID Auto
|PMID=21968727
|Title=Association of eNOS gene polymorphisms with essential hypertension in the Han population in southwestern China
}}

{{PMID Auto
|PMID=22025889
|Title=Reproductive factors and NOS3 variant interactions in primary open-angle glaucoma
|OA=1
}}

{{PMID Auto
|PMID=22031268
|Title=Three polymorphisms of the eNOS gene and plasma levels of metabolites of nitric oxide in depressed Japanese patients: a preliminary report
}}

{{PMID Auto
|PMID=20459474
|Title=Can we predict top-level sports performance in power vs endurance events? A genetic approach
}}

{{PMID Auto
|PMID=22470539
|Title=Pharmacogenetic Association of NOS3 Variants with Cardiovascular Disease in Patients with Hypertension: The GenHAT Study
|OA=1
}}
{{PMID Auto
|PMID=16820586
|Title=Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.
|OA=1
}}

{{PMID Auto
|PMID=17367796
|Title=Association of polymorphisms in NOS3 with the ankle-brachial index in hypertensive adults.
|OA=1
}}

{{PMID Auto
|PMID=17579350
|Title=NOS-I and -III gene variants are differentially associated with facets of suicidal behavior and aggression-related traits.
}}

{{PMID Auto
|PMID=17605790
|Title=Lack of association between endothelial nitric oxide synthase (NOS3) gene polymorphisms and suicide attempts.
|OA=1
}}

{{PMID Auto
|PMID=17980690
|Title=Polymorphisms in the endothelial nitric oxide synthase gene and bone density/ultrasound and geometry in humans.
|OA=1
}}

{{PMID Auto
|PMID=18246059
|Title=Habitual energy expenditure modifies the association between NOS3 gene polymorphisms and blood pressure.
|OA=1
}}

{{PMID Auto
|PMID=18279468
|Title=Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.
|OA=1
}}

{{PMID Auto
|PMID=18506375
|Title=Association of genetic variants with atherothrombotic cerebral infarction in Japanese individuals with metabolic syndrome.
}}

{{PMID Auto
|PMID=18698231
|Title=Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
|OA=1
}}

{{PMID Auto
|PMID=18776599
|Title=Susceptibility genes for gentamicin-induced vestibular dysfunction.
|OA=1
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|OA=1
}}

{{PMID Auto
|PMID=19132956
|Title=A common variant of the eNOS gene (E298D) is an independent risk factor for left ventricular hypertrophy in human essential hypertension.
}}

{{PMID Auto
|PMID=20204503
|Title=The association between two polymorphisms of eNOS and breast cancer risk: a meta-analysis.
}}

{{PMID Auto
|PMID=20457799
|Title=Effects of eNOS polymorphisms on nitric oxide formation in healthy pregnancy and in pre-eclampsia.
}}

{{PMID Auto
|PMID=21332392
|Title=Endothelial nitric oxide synthase haplotypes associated with aura in patients with migraine.
}}

{{PMID Auto
|PMID=21577011
|Title=NCAM1, TACR1 and NOS genes and temperament: a study on suicide attempters and controls.
}}

{{PMID Auto
|PMID=21703358
|Title=Polymorphisms in nitric-oxide synthase 3 may influence the risk of urinary-bladder cancer.
}}

{{PMID Auto
|PMID=22064666
|Title=Endothelial nitric oxide synthase genotypes and haplotypes modify the responses to sildenafil in patients with erectile dysfunction.
}}

{{PMID Auto
|PMID=22325930
|Title=Correlates of endothelial function and the peak systolic blood pressure response to a graded maximal exercise test.
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2070744
|overall_frequency_n=88
|overall_frequency_d=122
|overall_frequency=0.721311
|n_genomes=49
|n_genomes_annotated=0
|n_haplomes=75
|n_articles=6
|n_articles_annotated=6
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=22919264
|Title=No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients
|OA=1
}}

{{PMID Auto
|PMID=23122309
|Title=The relationship between polymorphisms at 17 gene sites and hypertension among the Aboriginal Tibetan people
}}

{{PMID Auto
|PMID=23681449
|Title=Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way
}}

{{PMID Auto
|PMID=24035903
|Title=The -974 C&gt;A (rs3087459) gene polymorphism in the endothelin gene (EDN1) is associated with risk of developing acute coronary syndrome in Mexican patients
}}

{{PMID Auto
|PMID=22499569
|Title=The C allele in NOS3 -786 T/C polymorphism is associated with elite soccer player's status.
}}

{{PMID Auto
|PMID=22865486
|Title=Interaction among nitric oxide (NO)-related genes in migraine susceptibility.
}}

{{PMID Auto
|PMID=23062210
|Title=eNOS tag SNP haplotypes in hypertensive disorders of pregnancy.
}}

{{PMID Auto
|PMID=23176758
|Title=Association of nitric oxide synthase gene polymorphisms (-786T>C, 4a4b, 894G>T) with primary ovarian insufficiency in Korean women.
}}

{{PMID Auto
|PMID=23333443
|Title=Analysis of polymorphisms and haplotypes in genes associated with vascular tone, hypertension and oxidative stress in Mexican-Mestizo women with severe preeclampsia.
}}

{{PMID Auto
|PMID=23826716
|Title=Association analysis of nitric oxide synthases: NOS1, NOS2A and NOS3 genes, with multiple sclerosis.
}}

{{PMID Auto
|PMID=24047197
|Title=Endothelial nitric oxide synthase gene variants and haplotypes associated with an increased risk of idiopathic recurrent miscarriage
}}

{{PMID Auto
|PMID=24870799
|Title=Nitric oxide synthase 3 gene variants and colorectal cancer: a meta-analysis
}}

{{PMID Auto
|PMID=24085449
|Title=Polymorphisms in the endothelial nitric oxide synthase gene associated with recurrent miscarriage
}}

{{PMID Auto
|PMID=24938467
|Title=Genetic variants of the endothelial NO synthase gene (eNOS) may confer increased risk of sporadic congenital heart disease
}}

{{PMID Auto
|PMID=24940036
|Title=Endothelial nitric oxide synthase polymorphisms and susceptibility to high-tension primary open-angle glaucoma in an Egyptian cohort
}}

{{PMID Auto
|PMID=24972130
|Title=Association of the NOS3 intron-4 VNTR polymorphism with aneurysmal subarachnoid hemorrhage
}}

{{PMID Auto
|PMID=25140814
|Title=Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy
}}

{{PMID Auto
|PMID=25164276
|Title=Genetic Variants within Endothelial Nitric Oxide Synthase Gene and Prostate Cancer: A Meta-Analysis
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}