Rs1799889

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 ; on the other hand, the 5G allele may increase the risk of abdominal aortic aneurysm (AAA).

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).

Plasminogen activator inhibitor-1 gene: selection of tagging single nucleotide polymorphisms and association with coronary heart disease.

4G/5G plasminogen activator inhibitor-1 polymorphisms and haplotypes are associated with pneumonia.

Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

No association between the promoter polymorphisms of PAI-1 gene and sporadic Alzheimer's disease in Chinese Han population.

Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.

Polymorphic variation of genes in the fibrinolytic system and the risk of ovarian cancer.

Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.

Clotting factor gene polymorphisms and colorectal cancer risk.

Promoter polymorphisms of SERPINE1 are associated with the antidepressant response to depression in Alzheimer's disease.