HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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

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