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From SNPedia

Geno Mag Summary
(G;G) 0 normal risk
(G;T) increased risk of preeclampsia
(T;T) increased risk of preeclampsia, also heart disease
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1799983
23andMe allrs1799983
SNP Nexus

GWAS Ctlgrs1799983
Max Magnitude0
? (G;G) (G;T) (T;T) 28
rs1799983 (also known as Glu298Asp, E298D, or G894T) located in the NOS3 gene was associated with an ~2x risk (p=0.006) of developing pre-eclampsia (pregnancy-induced hypertension) and further complications of it in a study of ~50 African women.[PMID 16059745]

A large meta-analysis combining 26 studies (9,867 patients) found that homozygosity for rs1799983(T;T) increases risk of ischemic heart disease. The odds ratio was 1.31 (CI: 1.13-1.51).[PMID 15007011]

However, a study of 1,600 Greek patients concluded that rs1799983 was not associated with risk of acute myocardial infarction in that population.[PMID 18495009OA-icon.png]

[PMID 19132956] left ventricular hypertrophy in human essential hypertension OR=1.5

[PMID 19419976OA-icon.png] Endothelial Nitric Oxide Synthase Tagging Single Nucleotide Polymorphisms and Recovery From Aneurysmal Subarachnoid Hemorrhage

[PMID 19435423] Lack of Association Between Matrix Metalloproteinase-9 and Endothelial Nitric Oxide Synthase Gene Polymorphisms and Coronary Artery Disease in Turkish Population

[PMID 19246226] The endothelial nitric oxide synthase gene and risk of diabetic nephropathy and development of cardiovascular disease in type 1 diabetes

[PMID 19815736OA-icon.png] The Relation between Endothelial Nitric Oxide Synthase Gene Variants and Primary Open-Angle Glaucoma: Interactions with Gender and Postmenopausal Hormone Use

[PMID 19960019OA-icon.png] Association of NOS3 Glu298Asp SNP with hypertension and possible effect modification of dietary fat intake in the ARIC study

[PMID 20409549] NOS3 gene polymorphisms are associated with risk markers of cardiovascular disease, and interact with omega-3 polyunsaturated fatty acids

[PMID 20467051] Single Nucleotide Polymorphism (SNP) of Endothelial Nitric Oxide Synthase (eNOS) Gene (GLU298ASP Variant) in Infertile Men with Asthenozoospermia

[PMID 20565909OA-icon.png] Frequency of eNOS polymorphisms in the Colombian general population

[PMID 20691505] NOS3 gene rs1799983 polymorphism and incident dementia in elderly stroke survivors

[PMID 21174581] Genetic Variants, Endothelial Function, and Risk of Preeclampsia Among American Indians

[PMID 21293869] Influence of endothelial nitric oxide synthase polymorphisms in psoriasis risk

[PMID 21291465] The association of genetic polymorphisms with cerebral palsy: a meta-analysis

[PMID 21886581OA-icon.png] Genetic Association Analysis of NOS3 and Methamphetamine-Induced Psychosis Among Japanese

[PMID 21963893OA-icon.png] Polymorphisms of genes in nitric oxide-forming pathway associated with ischemic stroke in Chinese Han population

[PMID 21968727] Association of eNOS gene polymorphisms with essential hypertension in the Han population in southwestern China

[PMID 22025889OA-icon.png] 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 22207178] Lack of association between Glu298Asp polymorphism and coronary artery disease in North Indians

[PMID 22251423] NAMPT (visfatin) and AKT1 genetic variants associate with myocardial infarction

[PMID 22417945] The G894T polymorphism on endothelial nitric oxide synthase gene is associated with increased coronary heart disease among Asia population: Evidence from a Meta analysis

Risk rs1799983(G;G)
Alt rs1799983(G;G)
Reference rs1799983(T;T)
Significance Other
Disease Coronary artery spasm 1 Alzheimer disease Hypertension Hypertension resistant to conventional therapy Ischemic heart disease Ischemic stroke
Variation info
Gene NOS3
CLNDBN Coronary artery spasm 1, susceptibility to Alzheimer disease, late-onset, susceptibility to Hypertension, pregnancy-induced, susceptibility to Hypertension resistant to conventional therapy Ischemic heart disease, susceptibility to Ischemic stroke, susceptibility to
Reversed 0
HGVS NC_000007.14:g.150999023T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015053.2, RCV000015054.2, RCV000015055.2, RCV000015056.25, RCV000015057.2, RCV000015058.2,

[PMID 15500681OA-icon.png] Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.

[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.

[PMID 16820586OA-icon.png] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.

[PMID 17101543] Glu298Asp and NOS4ab polymorphisms in diabetic nephropathy.

[PMID 17107626OA-icon.png] Comparison of PrASE and Pyrosequencing for SNP Genotyping.

[PMID 17404185] Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study.

[PMID 17579350] NOS-I and -III gene variants are differentially associated with facets of suicidal behavior and aggression-related traits.

[PMID 17601350OA-icon.png] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

[PMID 17605790OA-icon.png] Lack of association between endothelial nitric oxide synthase (NOS3) gene polymorphisms and suicide attempts.

[PMID 17717598OA-icon.png] Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk.

[PMID 17980690OA-icon.png] Polymorphisms in the endothelial nitric oxide synthase gene and bone density/ultrasound and geometry in humans.

[PMID 18069999] Renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms are not associated with the risk of incident type 2 diabetes mellitus: a prospective cohort study.

[PMID 18194558OA-icon.png] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.

[PMID 18246059OA-icon.png] Habitual energy expenditure modifies the association between NOS3 gene polymorphisms and blood pressure.

[PMID 18279468OA-icon.png] Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.

[PMID 18349107] Hyperinsulinemia and impaired leptin-adiponectin ratio associate with endothelial nitric oxide synthase polymorphisms in subjects with in-stent restenosis.

[PMID 18482449OA-icon.png] Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.

[PMID 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

[PMID 18622260OA-icon.png] Common genetic variation in six lipid-related and statin-related genes, statin use and risk of incident nonfatal myocardial infarction and stroke.

[PMID 18663495OA-icon.png] Nitric oxide synthase genes and their interactions with environmental factors in Parkinson's disease.

[PMID 18676870OA-icon.png] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.

[PMID 18682580OA-icon.png] Oxidative response gene polymorphisms and risk of adult brain tumors.

[PMID 18687083] Lack of association of endothelial nitric oxide synthase polymorphisms and migraine.

[PMID 18698212OA-icon.png] Association of renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study.

[PMID 18698231OA-icon.png] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.

[PMID 18776599OA-icon.png] Susceptibility genes for gentamicin-induced vestibular dysfunction.

[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19168583OA-icon.png] Nitric oxide synthase gene polymorphisms and prostate cancer risk.

[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

[PMID 19505917OA-icon.png] Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors.

[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.

[PMID 19587357OA-icon.png] A systematic meta-analysis of genetic association studies for diabetic retinopathy.

[PMID 19729601OA-icon.png] Candidate gene polymorphisms for ischemic stroke.

[PMID 20204503] The association between two polymorphisms of eNOS and breast cancer risk: a meta-analysis.

[PMID 20346360OA-icon.png] Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.

[PMID 20367485] A variant of the endothelial nitric oxide synthase gene (NOS3) associated with AMS susceptibility is less common in the Quechua, a high altitude Native population.

[PMID 20406163] Fenofibrate and metabolic syndrome.

[PMID 20406466OA-icon.png] Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey.

[PMID 20445800OA-icon.png] Genetic Polymorphisms in Genes Related to Oxidative Stress (GSTP1, GSTM1, GSTT1, CAT, MnSOD, MPO, eNOS) and Survival of Rectal Cancer Patients after Radiotherapy.

[PMID 20457799] Effects of eNOS polymorphisms on nitric oxide formation in healthy pregnancy and in pre-eclampsia.

[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 20624112] Tamm-Horsfall protein gene is associated with distal tubular dysfunction in patients with type 1 diabetes.

[PMID 20811626OA-icon.png] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.

[PMID 21252862] NOS3 variants, physical activity, and blood pressure in the European Youth Heart Study.

[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 21613201OA-icon.png] The effect of maternal and fetal beta2-adrenoceptor and nitric oxide synthase genotype on vasopressor requirement and fetal acid-base status during spinal anesthesia for cesarean delivery.

[PMID 21674837OA-icon.png] Association of NOS3 tag polymorphisms with hypoxic-ischemic encephalopathy.

[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 22588838] The apoptosis pathway and the genetic predisposition to Achilles tendinopathy.

[PMID 22676277] Vascular associated gene variants in patients with preeclampsia: results from the Danish National Birth Cohort

GET Evidence
aa_change Asp298Glu
aa_change_short D298E
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.749116

[PMID 22919264OA-icon.png] No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients

[PMID 23269619] Association of endothelial nitric oxide synthase gene polymorphisms with classical risk factors in development of premature coronary artery disease

[PMID 23276910] Association between polymorphism of the NQO1, NOS3 and NFE2L2 genes and AMD

[PMID 23387538] Influence of Endothelial Nitric Oxide Synthase Gene Polymorphisms (-786T/C, 4a4b, 894G/T) on Iranian Kidney Transplant Recipients

[PMID 23512673] More severe clinical course of cardiovascular dysfunction in intensive care unit patients with the 894TT eNOS genotype

[PMID 23603420] Polymorphisms of Angiotensin converting enzyme and nitric oxide synthase 3 genes as risk factors of high-altitude pulmonary edema: a case-control study and meta-analysis

[PMID 23681449] Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way

[PMID 23922896OA-icon.png] Genetic Polymorphism of NOS3 with Susceptibility to Deep Vein Thrombosis after Orthopedic Surgery: A Case-Control Study in Chinese Han Population

[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 24213141] A susceptibility haplotype within the endothelial nitric oxide synthase gene influences bone mineral density in hypertensive women

[PMID 24602444OA-icon.png] Analysis of nitric oxide synthase gene polymorphisms in neonatal respiratory distress syndrome among the Chinese Han population

[PMID 22729570] AKT3, ANGPTL4, eNOS3, and VEGFA associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau.

[PMID 22865486] Interaction among nitric oxide (NO)-related genes in migraine susceptibility.

[PMID 22982457] eNOS gene polymorphisms modify the association of PM(10) with oxidative stress.

[PMID 23062210] eNOS tag SNP haplotypes in hypertensive disorders of pregnancy.

[PMID 23107763] Host genetic risk factors for community-acquired pneumonia.

[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 23560644] Polymorphisms in genes involved in the free-radical process in patients with sudden sensorineural hearing loss and Meniere's disease.

[PMID 23563728] Association of endothelial nitric oxide synthase gene polymorphisms with type 2 diabetes mellitus: a meta-analysis.

[PMID 23775455OA-icon.png] Endothelial nitric oxide synthase gene polymorphisms and the risk of osteonecrosis of the femoral head in systemic lupus erythematosus.

[PMID 24047197] Endothelial nitric oxide synthase gene variants and haplotypes associated with an increased risk of idiopathic recurrent miscarriage

[PMID 24756758] Association of endothelia nitric oxide synthase gene rs1799983 polymorphism with susceptibility to prostate cancer: a meta-analysis

[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 24940036OA-icon.png] 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 25956856] Functional G894T (rs1799983) polymorphism and intron-4 VNTR variant of nitric oxide synthase (NOS3) gene are susceptibility biomarkers of obesity among Tunisians

[PMID 26002446] Endothelial nitric oxide synthase genotypes modulate peripheral vasodilatory properties after myocardial infarction

[PMID 26505452] Polymorphic variations in manganese superoxide dismutase (MnSOD) and endothelial nitric oxide synthase (eNOS) genes contribute to the development of type 2 diabetes mellitus in the Chinese Han population

[PMID 26579581] Genetic and environmental predictors of chronic kidney disease in patients with type 2 diabetes and diabetic foot ulcer: a pilot study