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Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 291

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Plasminogen cis Discovery rs783150 6:161,226,939 C/T 0.11 995 -0.517 0.066 8.7×10-15 -1.070 3.7×10-13 2.3×10-10

 

Regional association plots

 

Boxplots and histograms for top associations

Plasminogen

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study

Plasminogen

Target (abbrv.) Plasminogen
Target (full name) Plasminogen
Somalogic ID (Sequence ID) SL000541 (4151-6_2)
Entrez Gene Symbol PLG
UniProt ID P00747
UniProt Comment
  • Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian follicle. It activates the urokinase-type plasminogen activator, collagenases and several complement zymogens, such as C1 and C5. Cleavage of fibronectin and laminin leads to cell detachment and apoptosis. Also cleaves fibrin, thrombospondin and von Willebrand factor. Its role in tissue remodeling and tumor invasion may be modulated by CSPG4. Binds to cells.
Targeted by drugs (based on IPA annotation)
  • tenecteplase
  • PLAT
  • tranexamic acid
  • aprotinin
  • 6-aminocaproic acid
  • reteplase
Biomarker applications (based on IPA annotation)
  • diagnosis
Wiki Pathways
  • Blood Clotting Cascade
  • Complement and Coagulation Cascades
  • Folate Metabolism
  • Selenium Pathway
  • Vitamin B12 Metabolism
Pathway Interaction Database
  • Angiopoietin receptor Tie2-mediated signaling
  • Syndecan-4-mediated signaling events
  • Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling
  • amb2 Integrin signaling
  • p75(NTR)-mediated signaling
Reactome
  • Activation of Matrix Metalloproteinases
  • Degradation of the extracellular matrix
  • Dissolution of Fibrin Clot
  • Platelet degranulation
  • Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
  • Signaling by PDGF
Pathway Studio
  • Coagulation Cascade
  • ThrombinR → AP-1/CREB/ELK-SRF/SP1 signaling
  • ThrombinR → NF-kB signaling
  • ThrombinR → STAT1 signaling

All locus annotations are based on the sentinel SNP (rs783150) and 3 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
Potentially regulated genes