rs2227684
This is a regulatory region variant variant in the SERPINE1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment?Meta-analysisN=434Victor M. Salinas-Torres et al.(2018)· Pediatric Surgery International
This systematic review analyzed genetic associations with gastroschisis from 1980-2017, identifying 14 SNPs from 10 genes associated with crude risk and 30 SNPs from 14 genes with stratified risk. Four SNPs showed significant associations: rs4961 (ADD1, p=0.023), rs5443 (GNB3, p=0.002), rs1042713 (ADRB2, p=0.007), and rs1042714 (ADRB2, p=0.006). The findings suggest genetic susceptibility in gastroschisis is not restricted to gene-environment interactions, with blood pressure regulation genes playing a significant role in vascular disruption pathogenesis.
▶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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…