rs6136, SELP

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease. 30111768 2018
P-Selectin Measurement
CUI: C3890352
Disease: P-Selectin Measurement
0.700 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269 2017
Soluble P-Selectin Measurement
CUI: C4050627
Disease: Soluble P-Selectin Measurement
0.700 GeneticVariation GWASCAT Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels. 20167578 2010
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.030 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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.030 GeneticVariation BEFREE PSEL S290N, in single polymorphism analysis and in the haplotypic background with T715P, was associated with increased risk of incident CHD in whites. 17420019 2007
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.030 GeneticVariation BEFREE The P-selectin Thr715Pro polymorphism is not associated with incident CHD or ischemic stroke in either whites or African-Americans. 16125711 2006
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.030 GeneticVariation BEFREE P-selectin Thr715Pro polymorphism predicts P-selectin levels but not risk of incident coronary heart disease or ischemic stroke in a cohort of 14595 participants: the Atherosclerosis Risk in Communities Study. 16125711 2006
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.030 GeneticVariation BEFREE We measured serum soluble P-selectin levels as well as 3 polymorphisms of the P-selectin gene (C-2123G, A-1969G, and Thr715Pro) in a large cohort of patients with documented coronary artery disease (n=869) and a healthy control group (n=334). 11597943 2001
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.030 GeneticVariation BEFREE We measured serum soluble P-selectin levels as well as 3 polymorphisms of the P-selectin gene (C-2123G, A-1969G, and Thr715Pro) in a large cohort of patients with documented coronary artery disease (n=869) and a healthy control group (n=334). 11597943 2001
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.020 GeneticVariation BEFREE Our results support an important association of rs1800805, rs6136 minor allele of SELP gene, rs1800796 within IL-6 gene, and additional interaction between rs1800805 and rs1800796 with increased risk of CVD. 28819827 2017
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.020 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
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE We analyzed single nucleotide polymorphisms of P-selectin gene -2,123 G/C, -1,969 G/A, -1,817 T/C and Thr715Pro in three hundred and five patients with ischemic stroke and 280 age and sex matched controls, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing method. 18034324 2009
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.020 GeneticVariation BEFREE We assessed the effect of four single nucleotide polymorphisms (SNPs) [one in the promoter region (c.-2123C>G) and three (S290N, c.1087G>A; D562N, c.1902G>A; T715P, c.2363A>C) in the coding region] and the calculated haplotypes in the P-selectin gene (SELP) on sP-selectin concentrations and VTE risk. 18449419 2008
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.020 GeneticVariation BEFREE The effect on venous thromboembolism (VTE) of increased circulating concentrations of soluble P-selectin (sP-selectin) and their association with the P-selectin variant Thr715Pro is still uncertain. 17510305 2007
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.020 GeneticVariation BEFREE Several studies have attempted to demonstrate the association of the most intensively examined variant of P-selectin gene polymorphism (Thr715Pro) with sP-selectin levels in healthy subjects and in CVD, but contradictory data have been reported. 17598012 2007
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE The P-selectin Thr715Pro polymorphism is not associated with incident CHD or ischemic stroke in either whites or African-Americans. 16125711 2006
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE P-selectin Thr715Pro polymorphism predicts P-selectin levels but not risk of incident coronary heart disease or ischemic stroke in a cohort of 14595 participants: the Atherosclerosis Risk in Communities Study. 16125711 2006
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.020 GeneticVariation BEFREE These polymorphisms were tested individually for association with myocardial infarction (MI) and only the T715P polymorphism was shown to be associated with MI. 12165563 2002
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE We measured serum soluble P-selectin levels as well as 3 polymorphisms of the P-selectin gene (C-2123G, A-1969G, and Thr715Pro) in a large cohort of patients with documented coronary artery disease (n=869) and a healthy control group (n=334). 11597943 2001
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.010 GeneticVariation BEFREE In summary, we found SELP rs6136-T to be associated with RA and with increased expression of SELP mRNA. 25147926 2014
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1130233 polymorphisms with cachexia in PDAC. 25238546 2014
Cachexia
CUI: C0006625
Disease: Cachexia
0.010 GeneticVariation BEFREE SELP-rs6136-AA and AKT1-rs1130233-AA/GA genotypes were associated with increased risk of developing cachexia in both cohorts (SELP: p = 0.011 and p = 0.045; AKT1: p = 0.004 and p = 0.019 for the first and second cohorts, respectively), while patients carrying AKT1-rs1130233-GG survived significantly longer (p = 0.002 and p = 0.004 for the first and second cohorts, respectively). 25238546 2014
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Investigation of Thr715Pro P-selectin gene polymorphism and soluble P-selectin levels in type 2 diabetes mellitus. 17598012 2007