rs55744193

This variant is located in the PLAU gene.

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GWAS Catalog Trait Associations (2)

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 A
OR 0.70
p 5.0e-116
N 47,745
Large GWAS
European
Zhao JH et al. “Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets.” Nature Immunology 24(9):1540-1551 (2023)
Allele A
OR 0.78
p 2.0e-27
N 14,734
Large GWAS
multi-ancestry
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 1.360
p 9.0e-20
N 3,301
Large GWAS
European
Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)
Allele A
OR 1.24
p 1.0e-8
N 496
Small GWAS
European

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 A
OR 1.65
p 2.0e-96
N 5,348
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
6 submitters2 publications

Hirschsprung disease, susceptibility to, 1; Quebec platelet disorder; not provided; not specified

View on ClinVar →

About PLAU

This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

View all PLAU variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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