rs2227667

This is a intron variant variant in the SERPINE1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele G
OR 0.17
p 4.0e-12
N 5,354
Large GWAS
European
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Research that mentions this SNP (2)

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Variation in innate immunity genes and risk of multiple myeloma
AssociationN=578Purdue MP et al.(2011)· Hematological Oncology

A case-control study investigating 1,461 tag SNPs in 149 innate immunity gene regions found that genetic variants in SERPINE1, HGF, and CCR7 were associated with multiple myeloma risk. The strongest associations were observed for SERPINE1 rs2227667 (P=2.1×10−5) and HGF rs17501108 (P=5.0×10−5), which remained significant after permutation-based correction for multiple comparisons.

Traits studied:Multiple myeloma
PubMedDOIMetascience Observatory
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SERPINE1 intron polymorphisms affecting gene expression are associated with diffuse‐type gastric cancer susceptibility
AssociationN=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).

Traits studied:Diffuse-type gastric cancerGastric cancer susceptibilityIntestinal-type gastric cancer
PubMedDOIMetascience Observatory

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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