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 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 GWASCAT 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 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 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 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 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
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 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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.100 GeneticVariation BEFREE The rs1799983-T and rs891512-A alleles and interaction between rs1799983 and smoking were all risk factors of CHD. 31567371 2020
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE The Glu298Asp is a single nucleotide polymorphism (SNP) in the eNOS gene related to the risk of cardiovascular disease. 31442681 2020
Erectile dysfunction
CUI: C0242350
Disease: Erectile dysfunction
0.100 GeneticVariation BEFREE The frequencies of Intron 4 VNTR a/a allele and Glu298Asp GT allele were associated with severe ED, while a/b and TT were associated with moderate or mild, and b/b and GG were associated with no ED. 30977424 2019
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.100 GeneticVariation BEFREE When we stratified data based on type of disease, we found that the rs1799983, rs2070744 and rs869109213 polymorphisms were all significantly correlated with the risk of myocardial infarction or acute coronary syndrome in certain genetic models. 30789045 2019
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE Further subgroup analyses according to ethnicity of participants revealed that the rs1799983 and rs2070744 polymorphisms were significantly associated with the risk of coronary artery disease in both Caucasians and Asians, whereas the rs869109213 polymorphism was only associated with the risk of coronary artery disease in Caucasians. 30789045 2019
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE Our meta-analysis establishes that the G894T</span> and 4b/a polymorphisms of eNOS gene are significantly associated with the risk of IS. 28084234 2019
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.100 GeneticVariation BEFREE Further subgroup analyses according to ethnicity of participants revealed that the rs1799983 and rs2070744 polymorphisms were significantly associated with the risk of coronary artery disease in both Caucasians and Asians, whereas the rs869109213 polymorphism was only associated with the risk of coronary artery disease in Caucasians. 30789045 2019
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE Our findings show that the 27-bp VNTR polymorphic locus, but not the c.894G>T polymorphic locus, is associated with CAD and that it may regulate NOS3 pre-mRNA splicing in a length-dependent manner. 30447355 2019
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.100 GeneticVariation BEFREE Further subgroup analyses according to ethnicity of participants revealed that the rs1799983 and rs2070744 polymorphisms were significantly associated with the risk of coronary artery disease in both Caucasians and Asians, whereas the rs869109213 polymorphism was only associated with the risk of coronary artery disease in Caucasians. 30789045 2019
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.100 GeneticVariation BEFREE The association between the <i>NOS3</i> rs1799983 polymorphism and CAD may be partly mediated by abnormal NO and lipid levels caused by the T allele. 31138610 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE In present study we aim to assess the association of eNOS (G894T, rs1799983) and NET (G1287A, rs5569) genes polymorphism with T2DM. 31377977 2019
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.100 GeneticVariation BEFREE In addition, we also found that the rs1799983 polymorphism was significantly associated with the susceptibility to peripheral artery disease, whereas the rs2070744 polymorphism was significantly associated with the susceptibility to coronary artery disease in DM patients. 30140993 2018
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.100 GeneticVariation BEFREE As for vascular complications in DM, significant associations with the susceptibility to diabetic nephropathy were detected for the rs1799983 and rs2070744 polymorphisms. 30140993 2018
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.100 GeneticVariation BEFREE The NOS3 G894T polymorphic variant also correlated with atherosclerosis, an association probably mediated by the traditional risk factors for CVD. 29948131 2018
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.100 GeneticVariation BEFREE In conclusion, the eNOS G894T gene polymorphism was associated with the occurrence and development of CHD in young people. 29359785 2018
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.100 GeneticVariation BEFREE Interaction between endothelial nitric oxide synthase rs1799983, cholesteryl ester-transfer protein rs708272 and angiopoietin-like protein 8 rs2278426 gene variants highly elevates the risk of type 2 diabetes mellitus and cardiovascular disease. 29973202 2018