SERPINE1, serpin family E member 1, 5054

N. diseases: 770; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2070682
rs2070682
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0011884
Disease:
Diabetic Retinopathy
0.010 GeneticVariation BEFREE A significant effect of rs2070682 on the risk of early DR onset was found in the codominant model of inheritance [odds ratio, OR (95% confidence interval, CI): 5.04 (1.47-17.28), p = 0.018]. 28632032 2017
dbSNP: rs1799768
rs1799768
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0011884
Disease:
Diabetic Retinopathy
0.010 GeneticVariation BEFREE A total of 353 diabetic subjects including 160 DR and 193 diabetic non retinopathy (DNR) as well as 198 healthy controls were genotyped by allele specific polymerase chain reaction (PCR) for ACE Insertion/Deletion (ID) polymorphism, rs4646994 in intron 16 and PAI-1 4G/5G (deletion/insertion) polymorphism, rs1799768 in promoter region of the gene. 26658948 2015
dbSNP: rs763351020
rs763351020
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0011884
Disease:
Diabetic Retinopathy
0.010 GeneticVariation BEFREE We investigated the relationship between diabetic retinopathy (DR) and three polymorphisms, C(-106)T in the aldose reductase (ALR2) gene, 4G/5G in the plasminogen activator inhibitor-1 (PAI-1) gene and C677T in the methylenetetrahydrofolate reductase (MTHFR) gene, in 210 Euro-Brazilian type 2 diabetic patients. 12951282 2003