Rs1799983

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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
Chromosome7
Position150999023
GeneNOS3
is asnp
is mentioned by
dbSNPrs1799983
Exacrs1799983
PheGenIrs1799983
nextbiors1799983
hapmaprs1799983
1000 genomesrs1799983
hgdprs1799983
ensemblrs1799983
gopubmedrs1799983
geneviewrs1799983
scholarrs1799983
googlers1799983
pharmgkbrs1799983
gwascentralrs1799983
openSNPrs1799983
23andMers1799983
23andMe allrs1799983
SNP Nexus

SNPshotrs1799983
SNPdbers1799983
MSV3drs1799983
GMAF0.197
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

OMIM163729
DescCORONARY SPASMS, SUSCEPTIBILITY TO
Variant0001
Relatedalso
[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


ClinVar
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_000007.13:g.150696111T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015053.1, RCV000015054.1, RCV000015055.1, RCV000015056.24, RCV000015057.1, RCV000015058.1,



[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
NOS3-D298E
aa_change Asp298Glu
aa_change_short D298E
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.749116
summary



[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