rs1799889
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | MI risk | |
| (-;G) | MI risk? | |
| (G;G) | risk for aneurysms? |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 101126430 |
| Gene | SERPINE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799889 |
| dbSNP (classic) | rs1799889 |
| ClinGen | rs1799889 |
| ebi | rs1799889 |
| HLI | rs1799889 |
| Exac | rs1799889 |
| Gnomad | rs1799889 |
| Varsome | rs1799889 |
| LitVar | rs1799889 |
| Map | rs1799889 |
| PheGenI | rs1799889 |
| Biobank | rs1799889 |
| 1000 genomes | rs1799889 |
| hgdp | rs1799889 |
| ensembl | rs1799889 |
| geneview | rs1799889 |
| scholar | rs1799889 |
| rs1799889 | |
| pharmgkb | rs1799889 |
| gwascentral | rs1799889 |
| openSNP | rs1799889 |
| 23andMe | rs1799889 |
| SNPshot | rs1799889 |
| SNPdbe | rs1799889 |
| MSV3d | rs1799889 |
| GWAS Ctlg | rs1799889 |
| Max Magnitude | 0 |
rs1799889 is an insertion/deletion polymorphism in the promoter region of the SERPINE1 gene, which is also known as plasminogen activator inhibitor type 1 (or PAI1 or PAI-1). [There are several entries in dbSNP covering this same position; the one here in SNPedia is the one with population frequency.] The most common allele has a run of 5 G's in the area around this SNP, and in the literature the allele is commonly called the 5G allele. A deletion of one nucleotide leads to the "4G" allele, i.e. rs1799889(-).
The 4G allele has been reported to increase risk for atherosclerosis and coronary artery disease [PMID 9484978]; on the other hand, the 5G allele may increase the risk of abdominal aortic aneurysm (AAA). [PMID 10805895]
In combination with the A2 allele of the ITGB3 gene, rs5918, the increased risk of myocardial infarction in a Finnish study population was 4 fold higher (odds ratio = 4.5, p=0.001), particularly in males (odds ratio = 6.4, p=0.0005) [PMID 9700201].
[PMID 20737565] Association of PAI-1 gene polymorphism with survival and chemotherapy-related vascular toxicity in testicular cancer
[PMID 21752301
] Significant associations of PAI-1 genetic polymorphisms with osteonecrosis of the femoral head
[PMID 21761413] Genetic polymorphism of the plasminogen activator inhibitor-1 is associated with an increased risk of endometrial cancer[PMID 16424345] Plasminogen activator inhibitor-1 gene: selection of tagging single nucleotide polymorphisms and association with coronary heart disease.
[PMID 17761618] 4G/5G plasminogen activator inhibitor-1 polymorphisms and haplotypes are associated with pneumonia.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19368854] No association between the promoter polymorphisms of PAI-1 gene and sporadic Alzheimer's disease in Chinese Han population.
[PMID 19387820] Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.
[PMID 19526059] Polymorphic variation of genes in the fibrinolytic system and the risk of ovarian cancer.
[PMID 21385363] Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.
[PMID 21422408] Clotting factor gene polymorphisms and colorectal cancer risk.
[PMID 22503724] Promoter polymorphisms of SERPINE1 are associated with the antidepressant response to depression in Alzheimer's disease.
[PMID 23570848] tPA Alu (I/D) polymorphism associates with bacterial osteomyelitis
[PMID 23941979] Association of Genetic Polymorphisms With Histological Grading of Necroinflammation, Staging of Fibrosis, and Liver Function in Mexicans With Chronic Hepatitis C Virus Infection
[PMID 24355042] Association of five common polymorphisms in the plasminogen activator inhibitor-1 gene with primary ovarian insufficiency [PMID 23180602] Association between the SERPINE1 (PAI-1) 4G/5G insertion/deletion promoter polymorphism (rs1799889) and pre-eclampsia: a systematic review and meta-analysis.
[PMID 25020710] P324Circadian genes in the regulation of lipids in coronary artery disease
[PMID 25231632] Pai-1 Gene Variants and COC Use Are Associated with Stroke Risk: A Case-Control Study in the Han Chinese Women
[PMID 25675617] [PAL-1 5G/4G polymorphism in patients with systemic lupus erythematosus]
[PMID 26436397] Correlation between single nucleotide polymorphisms in hypoxia-related genes and susceptibility to acute high-altitude pulmonary edema
[PMID 30515004] Association Between - 675 ID, 4G/5G PAI-1 Gene Polymorphism and Pregnancy Loss: A Systematic Review.
[PMID 31115963] The implication of single-nucleotide polymorphisms in ovarian hyperstimulation syndrome.
