rs5361, SELE;C1orf112

N. diseases: 47
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.070 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) Ser128Arg in the E-selectin gene is overrepresented in certain patient groups with atherosclerosis or restenosis. 15546947 2005
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.070 GeneticVariation BEFREE Ser 128Arg of E-selectin and the K469E of ICAM-1 polymorphisms may be involved in predisposition to atherosclerosis. 22648254 2012
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.070 GeneticVariation BEFREE Functional characterization of atherosclerosis-associated Ser128Arg and Leu554Phe E-selectin mutations. 10430030 1999
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.070 GeneticVariation BEFREE Ser 128Arg of E-selectin and the K469E of ICAM-1 polymorphisms may be involved in predisposition to atherosclerosis. 22648254 2012
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.070 GeneticVariation BEFREE Relationships between the E-selectin S128R polymorphism and coronary artery calcification (CAC), a marker of atherosclerosis detected with noninvasive electron beam computed tomography, were examined in 294 asymptomatic women aged 40--88 years and 314 asymptomatic men aged 30--80 years from the Epidemiology of Coronary Artery Calcification Study. 11466561 2001
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.070 GeneticVariation BEFREE Relationships between the E-selectin S128R polymorphism and coronary artery calcification (CAC), a marker of atherosclerosis detected with noninvasive electron beam computed tomography, were examined in 294 asymptomatic women aged 40--88 years and 314 asymptomatic men aged 30--80 years from the Epidemiology of Coronary Artery Calcification Study. 11466561 2001
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.050 GeneticVariation BEFREE E-selectin S128R polymorphism and severe coronary artery disease in Arabs. 16756647 2006
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.050 GeneticVariation BEFREE Association between the Ser128Arg variant of the E-selectin and risk of coronary artery disease in the central China. 16061120 2005
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.050 GeneticVariation BEFREE The interaction of classical risk factors for CAD with S128R polymorphism in our study population showed that the significant determinants of coronary artery disease were presence of diabetes, hypertension, smoking habit, elevated serum triglycerides and low HDL. 19942746 2009
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.050 GeneticVariation BEFREE In subjects suffering from diabetes mellitus type 2 the E-selectin S128R polymorphism is not associated with coronary artery disease nor with an increased risk for myocardial infarction. 15013273 2003
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.050 GeneticVariation BEFREE The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease. 17578587 2007
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.040 GeneticVariation BEFREE All P-selectin polymorphisms as well as a common E-selectin polymorphism, Ser128Arg which has been reported as being associated with an increased risk of premature coronary heart disease (CHD), and is in tight linkage disequilibrium with several P-selectin polymorphisms, were investigated in 647 patients with MI and 758 control subjects from four regions of France and Northern Ireland (the ECTIM study). 9668170 1998
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.040 GeneticVariation BEFREE In subjects suffering from diabetes mellitus type 2 the E-selectin S128R polymorphism is not associated with coronary artery disease nor with an increased risk for myocardial infarction. 15013273 2003
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.040 GeneticVariation BEFREE Our results suggested there is an increase in the risk of CAD conferred by the Ser128Arg polymorphism and the thr715Pro polymorphism may be a protective factor of MI. 24498435 2014
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.040 GeneticVariation BEFREE Our results suggest that the E-selectin Ser128Arg polymorphism can functionally alter leukocyte-endothelial interactions as well as biochemical and biological consequences, which may account for the pathogenesis of myocardial infarction. 12649084 2003
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.030 GeneticVariation BEFREE Our results indicate that the individuals bearing AC genotype of E-selectin gene polymorphism (S128R) are more prone to stroke than AA genotype. 24249306 2014
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.030 GeneticVariation BEFREE Association of E-selectin gene polymorphism (S128R) with ischemic stroke and stroke subtypes. 24249306 2014
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.030 GeneticVariation BEFREE Recently, a polymorphism in the E-selectin gene (S128R) has been associated with higher E-selectin levels in patients with diabetes mellitus and with premature coronary artery disease. 15013273 2003
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.030 GeneticVariation BEFREE E-selectin gene (S128R) polymorphism in hemorrhagic stroke: comparison with ischemic stroke. 25168603 2014
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.030 GeneticVariation BEFREE Among women with low levels of subclinical inflammation (C-reactive protein levels below the population median), S128R R allele carriers had a diabetes risk factor-adjusted relative risk of incident diabetes of 1.71 (95% confidence interval, 1.04 to 2.81) relative to those with the SS genotype. 15833936 2005
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.030 GeneticVariation BEFREE The genotypic and allelic variation between the ischemic and hemorrhagic stroke, suggests that E-selectin S128R mediated amplification of leukocytes onto endothelial cells, leading to secondary damage of brain cells is more pronounced in hemorrhagic stroke. 25168603 2014
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.030 GeneticVariation BEFREE The interaction of classical risk factors for CAD with S128R polymorphism in our study population showed that the significant determinants of coronary artery disease were presence of diabetes, hypertension, smoking habit, elevated serum triglycerides and low HDL. 19942746 2009
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.030 GeneticVariation BEFREE The frequency of minor allele (R) and heterozygous (RS) genotype of E-selectin S128R polymorphism was significantly higher in the stroke patients than in the controls. 19420919 2009
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.030 GeneticVariation BEFREE Our study demonstrates that the E-selectin S128R and L554F polymorphisms are associated with susceptibility to ischemic stroke. 19420919 2009
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.020 GeneticVariation BEFREE E-selectin S128R "C" allele may confer an increased susceptibility to pancreatic cancer development, while its carriage status does not appear to be related to the aggressive features of this malignancy. 20607758 2010