rs2227669
This variant is located in the SERPINE1 gene.
▶ClinVar annotation
Congenital plasminogen activator inhibitor type 1 deficiency
View on ClinVar →▶Research that mentions this SNP (1)
▶SERPINE1 intron polymorphisms affecting gene expression are associated with diffuse‐type gastric cancer susceptibilityAssociationN=1,101Hyoungseok Ju et al.(2010)· Cancer
A case-control study of 1,101 Korean individuals (612 gastric cancer patients, 489 controls) identified SERPINE1 intron 7 polymorphisms associated with diffuse-type gastric cancer (DGC) susceptibility. The SNP rs2227692 (C>T) showed significant association with DGC (OR=1.62, p=0.00084 for T-allele carriers) but not with intestinal-type gastric cancer. A risk haplotype containing rs2227692 and three additional correlated variants (c.1162+604AAAG repeat, c.1162+664_673 deletion, rs2070683) exhibited 30% higher SERPINE1 gene expression in luciferase assays (p=0.025).
About SERPINE1
This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [provided by RefSeq, Aug 2020]
View all SERPINE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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