rs4251923

This is a 3 prime utr variant variant in the PLAUR gene.

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GWAS Catalog Trait Associations (1)

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

urokinase-type plasminogen activator measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.11
p 6.0e-14
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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A genetic variation located in the promoter region of the UPAR (CD87) gene is associated with the vascular complications of systemic sclerosis
ReviewMirko Manetti et al.(2011)· Arthritis &amp; Rheumatism

This review examines soluble urokinase plasminogen activator receptor (suPAR) as a biomarker of systemic chronic inflammation (SCI). The authors present 10 key properties supporting suPAR as a superior biomarker for measuring SCI, including its upregulation by immune activation, association with circulating immune cells, correlation with established inflammatory markers, stability over short-term influences, and prognostic value for morbidity and mortality across multiple diseases. A recent GWAS study identified 13 genome-wide significant variants associated with suPAR levels across 11 loci, including variants in PLAUR, PLAU, and PLA2R1 genes, with an estimated heritability of 60%. Specific PLAUR polymorphisms rs344781 and rs4251923 have been associated with various clinical conditions, and APOL1 variants interact with suPAR to influence kidney function.

Traits studied:Autoimmune diseasesCancerCardiovascular diseaseDepressionImmunosenescenceKidney diseaseMetabolic syndromeNeurodegenerative diseasesOsteoporosisSarcopeniaSystemic chronic inflammationType 2 diabetes
PubMedDOIMetascience Observatory

About PLAUR

This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]

View all PLAUR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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