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

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Locus annotations

Locus 288

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Kininogen, HMW cis Discovery rs3856930 3:186,458,322 C/T 0.35 994 0.353 0.045 7.6×10-15 1.080 2.2×10-15 1.7×10-13
Kininogen, HMW cis Replication rs5030060 3:186,452,917 G/A 0.23 337 0.092 0.086 0.287 1.020 0.366 0.418

 

Regional association plots

 

Boxplots and histograms for top associations

Kininogen-1 (Kininogen, HMW)

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

Kininogen-1 (Kininogen, HMW)

Target (abbrv.) Kininogen, HMW
Target (full name) Kininogen-1
Somalogic ID (Sequence ID) SL017189 (4495-33_2)
Entrez Gene Symbol KNG1
UniProt ID P01042
UniProt Comment
  • (1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) it is a mediator of inflammation and causes (4E1) increase in vascular permeability, (4E2) stimulation of nociceptors (4E3) release of other mediators of inflammation (e.g. prostaglandins), (4F) it has a cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor action); (5) LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW-kininogen is in contrast to HMW-kininogen not involved in blood clotting.
Wiki Pathways
  • ACE Inhibitor Pathway
  • Complement and Coagulation Cascades
Pathway Interaction Database
  • Beta2 integrin cell surface interactions
  • Syndecan-2-mediated signaling events
Reactome
  • G alpha (i) signalling events
  • G alpha (q) signalling events
  • Intrinsic Pathway of Fibrin Clot Formation
  • Peptide ligand-binding receptors
  • Platelet degranulation
Pathway Studio
  • BDKRB1/2 → interleukins production
  • BDKRB1/2 → ion channels
  • BDKRB1/2 → prostaglandin generation
  • BDKRB1/2 → vasodilation
  • Coagulation Cascade

All locus annotations are based on the sentinel SNP (rs3856930) and 4 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


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Genes hit or close-by

 

Results from other genome-wide association studies

Trait P Study Source
Activated partial thromboplastin time 4×10-136 22703881 (PMID) GRASP2 nonQTL
bradykinin, des-arg(9) 1.4×10-12 24816252 (PMID) gwas.eu via SNiPA
Adiponectin levels 2.3×10-10 22479202 (PMID) GRASP2 nonQTL
Adiponectin levels (female) 2×10-9 22479202 (PMID) GRASP2 nonQTL