rs12953, PECAM1

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.040 GeneticVariation BEFREE No significant association was detected between rs668 and rs12953 with MI under any of the inheritance models. 23906939 2013
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.040 GeneticVariation BEFREE The frequency of the Gly670Arg polymorphism was significantly higher in patients with myocardial infarction (MI), whereas the frequencies of the other two SNP (Leu125Val and Ser563Asn) were not significantly different between patients and controls. 17460171 2007
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.040 GeneticVariation BEFREE The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of atherosclerosis but not necessarily of MI. 14575520 2003
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.040 GeneticVariation BEFREE Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene, Asn563Ser and Gly670Arg, associated with myocardial infarction in the Japanese. 11795274 2001
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.020 GeneticVariation BEFREE Of the 137 angiographically confirmed patients (> or =70% stenosis) of CAD and 110 controls in Asian Indian population, two single nucleotide polymorphisms (SNPs) of PECAM-1 gene, C+373G (Leu125Val) at exon 3 and G+1688A (Ser563Asn) at exon 8 were analyzed by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) strategy. 15756041 2005
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.020 GeneticVariation BEFREE We analyzed two single nucleotide polymorphisms (SNPs) of PECAM-1 gene C+373G (Leu125Val) at exon 3, which encodes the first extracellular (Ig)-like domain that mediates the homophilic binding of PECAM-1, and G+1688A (Ser563Asn) at exon 8 in 144 angiographically documented (> or =70% stenosis) patients with CAD and 150 age- and sex-matched controls in the Chinese population in Singapore, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy. 15589815 2004
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
0.010 GeneticVariation BEFREE The present study analyzed the single nucleotide polymorphisms (SNPs) of PECAM-1, namely Leu125Val (C373G), Asn563Ser (T1688C) and Gly670Arg (C2008T), in Chinese patients with DVT and age-and gender-matched controls, using polymerase chain reaction-restriction fragment length polymorphism analysis. 25846278 2015
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE Atherosclerotic complications were more frequent in SLE patients with AG genotype (rs12953) than those with AA genotype (p = 0.021). 25201689 2014
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.010 GeneticVariation BEFREE The frequencies of 373C (rs668) and 1688A (rs12953) alleles were higher in RA patients when compared to controls (p values, 0.028 and 0.016). 25201689 2014
Graft-vs-Host Disease
CUI: C0018133
Disease: Graft-vs-Host Disease
0.010 GeneticVariation BEFREE Acute graft-vs.-host disease correlates with the disparity for the PECAM-1 S536N polymorphism only in the HLA-B44-like positive Tunisian recipients of HSCs. 20850712 2010
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
0.010 GeneticVariation BEFREE The frequency of the Gly670Arg polymorphism was significantly higher in patients with AMI (58.9% vs. 48.3%; P = 0.019), whereas the frequencies of the other two SNPs (Leu125Val and Ser563Asn) were not significantly different between patients and controls. 15265022 2004
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.010 GeneticVariation BEFREE The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of atherosclerosis but not necessarily of MI. 14575520 2003
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.010 GeneticVariation BEFREE The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of atherosclerosis but not necessarily of MI. 14575520 2003