rs2071559, KDR

N. diseases: 26
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
0.010 GeneticVariation BEFREE Compared with their corresponding wild-type genotypes, one coding variant, rs2305948 (Val297Ile), in the vascular endothelial growth factor receptor-2 gene was associated with increased susceptibility to intracerebral hemorrhage (additive model: OR, 2.06; 95% CI, 1.64 to 2.59; P=7.6x10(-10); dominant model: OR, 2.20; 95% CI, 1.70 to 2.84; P=1.5x10(-9)), a promoter variant rs2071559 (-604T>C) in the gene was associated with reduced susceptibility to atherothrombotic stroke (additive model: OR, 0.82; 95% CI, 0.71 to 0.93; P=0.003; dominant model: OR, 0.78; 95% CI, 0.65 to 0.92; P=0.004) and was reversely correlated with carotid artery intima media thickness (P=2.8x10(-5)). 19520980 2009
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.020 GeneticVariation BEFREE Two polymorphisms (rs833069 in intron 2 of the VEGF-A gene, rs2071559 in the promoter of the KDR gene) were significantly associated with risk of AMD. 20471686 2010
Glioma
CUI: C0017638
Disease: Glioma
0.010 GeneticVariation BEFREE Three SNPs, rs2071559, rs7667298 and rs2305948, showed a statistically significant increased association with the risk of glioma (P = 0.006, 0.005, and 0.012, respectively). 22274884 2012
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.020 GeneticVariation BEFREE Our study shows that VEGFA rs699947 and rs833061 and VEGFR2 rs2071559 polymorphisms do not modify the risk of suffering AMD in a Spanish population. 23971975 2013
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.010 GeneticVariation BEFREE VEGF A (rs699947 and rs833061) and VEGFR2 (rs2071559) gene polymorphisms are not associated with AMD susceptibility in a Spanish population. 23971975 2013
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.020 GeneticVariation BEFREE A significantly higher frequency of the CC genotype of the KDR -604T>C (rs2071559) polymorphism was found in diabetic patients with MI compared to diabetic patients without CAD (27.5% vs. 21.1%, p=0.04). 25128838 2014
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE The present study demonstrates that the CC genotype of the KDR -604T>C polymorphism (rs2071559) is a possible risk factor for MI in Caucasians with T2DM. 25128838 2014
Diabetic Retinopathy
CUI: C0011884
Disease: Diabetic Retinopathy
0.010 GeneticVariation BEFREE After adjustment for covariates, significant association of DR remained with the homozygous genotype of the minor allele for the SNPs rs699947 (odds ratio [OR] = 3.54, 95% confidence interval [CI]: 1.12-11.19), rs833061 (OR = 3.72, 95% CI: 1.17-11.85), rs13207351 (OR = 3.76, 95% CI: 1.21-11.71), and rs2146323 (OR = 2.8, 95% CI: 1.46-5.37) in the VEGF gene as well as the SNP rs2071559 (OR = 1.62, 95% CI: 1.08-2.41) in the KDR gene. 24623964 2014
Tumor thrombus
CUI: C3163918
Disease: Tumor thrombus
0.010 GeneticVariation BEFREE Our data showed that genotype AA+TA of rs1870377 and genotype CC+TC of rs2071559 were significantly associated with overall survival of HCC patients (P<0.001 and P<0.001, respectively) and remained as significant predictors for OS adjusting for high level of serum AFP (>400 μg/L), existence of portal vein tumor thrombus, and high BCLC stage (HR=0.61; 95% CI, 0.36-0.88; P=0.003 and HR=0.54; 95% CI, 0.40-0.94; P=0.002, respectively). 25123269 2014
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.010 GeneticVariation BEFREE The present study demonstrates that the CC genotype of the KDR -604T>C polymorphism (rs2071559) is a possible risk factor for MI in Caucasians with T2DM. 25128838 2014
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.010 GeneticVariation BEFREE Our data showed that genotype AA+TA of rs1870377 and genotype CC+TC of rs2071559 were significantly associated with overall survival of HCC patients (P<0.001 and P<0.001, respectively) and remained as significant predictors for OS adjusting for high level of serum AFP (>400 μg/L), existence of portal vein tumor thrombus, and high BCLC stage (HR=0.61; 95% CI, 0.36-0.88; P=0.003 and HR=0.54; 95% CI, 0.40-0.94; P=0.002, respectively). 25123269 2014
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.010 GeneticVariation BEFREE At multivariate analysis, major vascular invasion and rs1870377 were independent factors in TTP and performance status, rs1870377, and rs2071559 were independent factors in OS. 25182707 2014
Metastatic Renal Cell Carcinoma
CUI: C4721698
Disease: Metastatic Renal Cell Carcinoma
0.010 GeneticVariation BEFREE No SNP predicted axitinib outcomes.Although VEGFR2 rs2071559 predicted sorafenib efficacy in patients with mRCC, sensitivity/specificity limitations preclude its use for selecting individual patients for sorafenib treatment. 25816720 2015
Metastatic Renal Cell Cancer
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
0.010 GeneticVariation BEFREE No SNP predicted axitinib outcomes.Although VEGFR2 rs2071559 predicted sorafenib efficacy in patients with mRCC, sensitivity/specificity limitations preclude its use for selecting individual patients for sorafenib treatment. 25816720 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE In the present study, we demonstrated minor effect of the rs2071559 of KDR on markers of carotid atherosclerosis in subjects with T2DM. 26881237 2016
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.010 GeneticVariation BEFREE Meanwhile, stratified analysis demonstrated that mutation of rs2071559 and rs2305948 could elevate the risk of astrocytomas more significantly in the subgroup of smokers than the nonsmokers. 26081139 2016
Exudative age-related macular degeneration
0.010 GeneticVariation BEFREE IL-8 rs4073 and VEGFR-2 rs2071559 genotypes may represent important molecular determinants to modulate final outcomes in neovascular age-related macular degeneration patients. 26653034 2016
Carotid Atherosclerosis
CUI: C0577631
Disease: Carotid Atherosclerosis
0.010 GeneticVariation BEFREE In the present study, we demonstrated minor effect of the rs2071559 of KDR on markers of carotid atherosclerosis in subjects with T2DM. 26881237 2016
Lymphatic Metastasis
CUI: C0024232
Disease: Lymphatic Metastasis
0.010 GeneticVariation BEFREE The rs2071559 polymorphism was shown to have an association with lymphatic metastasis in patients with NPC; however, the precise molecular mechanism should be elucidated in additional studies. 29344214 2017
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
0.010 GeneticVariation BEFREE The rs2071559 polymorphism was shown to have an association with lymphatic metastasis in patients with NPC; however, the precise molecular mechanism should be elucidated in additional studies. 29344214 2017
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE Regional lymph node metastasis was significantly correlated with the rs2071559 C allele and the related genotypes (OR 0.402, 95% CI 0.193-0.835, P=0.016; and OR 0.347, 95% CI 0.145-0.829, P=0.024, respectively). 29344214 2017
Varicosity
CUI: C0042345
Disease: Varicosity
0.010 GeneticVariation BEFREE Objective To study the association of polymorphisms rs699947, rs2010963, rs3025039 in the VEGFA gene region and rs1870377, rs2305949, rs2071559 in the VEGFR2 gene region with the risk of primary varicose veins in ethnic Russians. 27932624 2018
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.020 GeneticVariation BEFREE Subgroup analyses by type of disease revealed similar significant findings for rs1870377, rs2071559, and rs2305948 polymorphisms in coronary artery disease (CAD) subgroup. 31339592 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.010 GeneticVariation BEFREE KDR rs2071559 T and rs2305948 A alleles were associated with RA (<i>p</i> = 0.001, OR = 0.60, 95% CI = 0.45-0.81 and <i>p</i> = 0.008, OR = 1.71, CI = 1.15-2.54). 31405022 2019
Coronary Stenosis
CUI: C0242231
Disease: Coronary Stenosis
0.010 GeneticVariation BEFREE Homozygous GG genotype and G allele of VEGFR2 rs2071559 polymorphism were associated with decreased risk of developing coronary artery stenosis. 30991288 2019