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WCMC

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

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Locus annotations

Locus 158

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
P-Selectin cis Discovery rs6136 1:169,563,951 T/G 0.10 997 -0.768 0.071 1.1×10-25 -1.170 1.2×10-26 2×10-24

 

Regional association plots

 

Boxplots and histograms for top associations

P-Selectin

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

P-Selectin

Target (abbrv.) P-Selectin
Target (full name) P-Selectin
Somalogic ID (Sequence ID) SL000560 (4154-57_2)
Entrez Gene Symbol SELP
UniProt ID P16109
UniProt Comment
  • Ca(2+)-dependent receptor for myeloid cells that binds to carbohydrates on neutrophils and monocytes. Mediates the interaction of activated endothelial cells or platelets with leukocytes. The ligand recognized is sialyl-Lewis X. Mediates rapid rolling of leukocyte rolling over vascular surfaces during the initial steps in inflammation through interaction with PSGL1.
Biomarker applications (based on IPA annotation)
  • efficacy
  • safety
  • unspecified application
Pathway Interaction Database
  • IL4-mediated signaling events
  • amb2 Integrin signaling
Reactome
  • Cell surface interactions at the vascular wall
  • Platelet degranulation
Pathway Studio
  • Leukocyte Adhesion to Endothelial Cell

All locus annotations are based on the sentinel SNP (rs6136) and 1 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
  • F5 coagulation factor V (proaccelerin, labile factor)
  • SELP selectin P (granule membrane protein 140kDa, antigen CD62)
eQTL genes
  • F5 coagulation factor V (proaccelerin, labile factor)

 

Results from other genome-wide association studies

Trait P Study Source
Soluble levels of adhesion molecules 4×10-61 20167578 (PMID) GWAS Catalog via SNiPA
Soluble P-selectin 4.1×10-61 20167578 (PMID) GRASP2 nonQTL
Gene expression of F5 in blood 3.1×10-18 21829388 (PMID) GRASP2 eQTL
Gene expression of SELL in blood 6.9×10-10 21829388 (PMID) GRASP2 eQTL
Gene expression of F5 in CD4+ lymphocytes 2.4×10-5 20833654 (PMID) GRASP2 eQTL
Serum ratio of (1-linoleoylglycerophosphocholine)/(2-linoleoylglycerophosphocholine*) 3.3×10-4 21886157 (PMID) GRASP2 metabQTL