rs1799983, NOS3

N. diseases: 246
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.780 GeneticVariation BEFREE In conclusion, genotypic polymorphisms of the eNOS Glu298Asp and Cav-1 14713A/29107A polymorphisms are associated with the elevated risk of LAA stroke among Han Chinese in Taiwan. 28346478 2017
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.780 GeneticVariation BEFREE In pooled analysis of all patients, intron 4c, but not intron 4a, intron 4b or G894T alleles are associated with stroke (p < 0.01). 18070351 2007
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.780 GeneticVariation BEFREE Thus, we examined the possible association of eNOS G894T variation with stroke severity and functional outcome. 22004707 2011
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.780 GeneticVariation BEFREE We identified an exonic polymorphism in NOS3 (rs1799983, p.Glu298Asp; p = 2.2E-8, odds ratio [OR] = 1.05, 95% confidence interval [CI] = 1.04-1.07) and variants in an intron of COL4A1 (rs9521634; p = 3.8E-8, OR = 1.04, 95% CI = 1.03-1.06) and near DYRK1A (rs720470; p = 6.1E-9, OR = 1.05, 95% CI = 1.03-1.07) at genome-wide significance for stroke. 30383316 2018
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.780 GeneticVariation BEFREE AF patients with rs1799983 variants were more likely to have coronary artery disease or stroke than those without genetic variant at this gene (31.0% vs. 17.3%, p=0.004). 26256966 2015
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.780 GeneticVariation BEFREE However, the copresence of G894T and intron 4 VNTR risk-elevating genotypes in the same individual increased the risk of stroke seven times (odds ratio=7.083, 95% confidence interval=0.866-57.963, p=0.029). 25321404 2014
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.780 GeneticVariation BEFREE In order to investigate the influence of genetic factors in childhood stroke, we compared the distributions of mutations/ polymorphisms affecting hemostasis and/or endothelial function (factor V [FV] Leiden, factor II [FII] G20210A, methylenetetrahydrofolate reductase [MTHFR] C677T, angiotensin-converting enzyme [ACE] insertion/deletion [ID], and endothelial nitric oxide synthase [eNOS] G894T) among children with stroke and controls. 19372095 2009
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.780 GeneticVariation BEFREE We tested a single nucleotide polymorphism (SNP) in endothelial nitric oxide synthase (NOS3) gene at codon 298 (single-nucleotide polymorphism rs1799983; p.Asp298Glu) in a cohort of 355 older (>75 years) stroke survivors, who had detailed cognitive assessments from 3 months poststroke, i.e., baseline when the patients were free of dementia and subsequently at annual intervals. 20691505 2011
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.100 GeneticVariation BEFREE To assess the role of the endothelial nitric oxide synthase (eNOS) gene variants as risk factors for early atherosclerosis, we sought to investigate whether two polymorphisms located in the exon 7 (Glu298-->Asp) and in the promoter region (T-786-->C) of the eNOS gene were associated with functional changes in the endothelium and carotid intima-media thickness (IMT). 15073390 2004
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.100 GeneticVariation BEFREE The Glu-298-->Asp (894G-->T) mutation at exon 7 of the endothelial nitric oxide synthase gene and coronary artery disease. 10475066 1999
Erectile dysfunction
CUI: C0242350
Disease: Erectile dysfunction
0.100 GeneticVariation BEFREE Logistic regression analysis showed that G894T polymorphism was an independent risk factor for ED. 19473288 2009
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.100 GeneticVariation BEFREE Endothelial nitric oxide synthase G894T gene polymorphism in Chilean subjects with coronary artery disease and controls. 16616056 2006
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.100 GeneticVariation BEFREE Effects of eNOS rs1799983 and ACE rs4646994 polymorphisms on the therapeutic efficacy of salvianolate injection in Chinese patients with coronary heart disease. 24827774 2014
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.100 GeneticVariation BEFREE However, a subgroup analysis adjusted with various cardiovascular risk factors confirmed positive association of the -786T>C polymorphism in CAD patients with hypertension and a smoking history and also a significant association of the intron 4 genotypes with a smoking history, but no significance has been found in the eNOS polymorphisms of 894G>T upon any risk adjustment. 16842840 2007
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.100 GeneticVariation BEFREE Glu298Asp polymorphism of the endothelial nitric oxide synthase (eNOS) gene (NOS3) has been characterized as a risk factor of hypertension and coronary artery disease. 21816783 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE It was found that, compared with -786TT, the -786C variant genotypes were associated with a significantly increased risk of breast cancer in an allele dose-dependent manner (adjusted odds ratio [OR], 1.33 [95% confidence interval (95% CI)], 0.99-1.77 for -786TC; and OR, 1.79 [95% CI, 1.11-2.87] for -786CC; P(trend) = .007), but 27-bp VNTR and 894G>T genotypes were not. 17063466 2006
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.100 GeneticVariation BEFREE Recently, a Glu298Asp variant of the endothelial nitric oxide synthase gene (NOS3) was identified as being associated with coronary spasm and myocardial infarction, whereas it has been reported that endothelial nitric oxide synthase plays a role in HP. 11745998 2001
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.100 GeneticVariation BEFREE Interactive effects of the ACE DD polymorphism with the NOS III homozygous G849T (Glu298-->Asp) variant in determining endothelial function in coronary artery disease. 14989558 2003
Essential Hypertension
CUI: C0085580
Disease: Essential Hypertension
0.100 GeneticVariation BEFREE Indeed, a missense mutation in the endothelial NO gene caused by a Glu298Asp alteration has been strongly associated with essential hypertension, coronary artery spasm, and myocardial infarction. 11967250 2002
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.100 GeneticVariation BEFREE In conclusion, the protective HO1 promoter polymorphism correlates with a lower coronary artery plaque burden, whereas the protective ENOS 894 G/T polymorphism seems to favourably influence changes of coronary artery plaque composition during statin therapy, but has no significant correlation to the magnitude of coronary atherosclerosis. 22123460 2011
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
0.100 GeneticVariation BEFREE Impact of nitric oxide synthase Glu298Asp polymorphism on the development of end-stage renal disease in type 2 diabetic Egyptian patients. 21854353 2011
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.100 GeneticVariation BEFREE This study indicates that E298D polymorphism of the eNOS gene seems to be associated with MI occurrence in the Greek population. 20854685 2010
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE The eNOS G894T or eNOS 894TT genotypes in combination with the MTHFR 677TT or ACE D/D genotype increases the risk of ischaemic stroke. 15595935 2005
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.100 GeneticVariation BEFREE In this study, a case-control study was carried out to investigate the effects of 7 SNPs in ACE gene and 2 SNPs in eNOS gene in the development of DN in Northern China.7 SNPs including A240T, A2350G, A5466C, A2215G, T3892C, C1237T and C3409T of ACE gene and 2 SNPs (G894T and T786C) of eNOS gene were genotyped by polymerase chain reaction restriction fragment length polymorphism method. 25227524 2015
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
0.100 GeneticVariation BEFREE Atherosclerosis and the Glu298Asp polymorphism of the eNOS gene in white patients with end-stage renal disease. 16364824 2005