HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 231

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-1 R AcP cis Discovery rs2193873 3:190,313,507 A/G 0.50 997 0.334 0.039 1.7×10-17 1.110 1.4×10-17 6.9×10-18
IL-1 R AcP cis Replication rs3773954 3:190,314,468 G/A 0.46 337 -0.219 0.068 0.001 -1.080 0.001 0.001

 

Regional association plots

Interleukin-1 Receptor accessory protein (IL-1 R AcP)

 

Boxplots and histograms for top associations

Interleukin-1 Receptor accessory protein (IL-1 R AcP)

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

Interleukin-1 Receptor accessory protein (IL-1 R AcP)

Target (abbrv.) IL-1 R AcP
Target (full name) Interleukin-1 Receptor accessory protein
Somalogic ID (Sequence ID) SL004588 (2630-12_2)
Entrez Gene Symbol IL1RAP
UniProt ID Q9NPH3
UniProt Comment
  • Coreceptor for IL1RL2 in the IL-36 signaling system (By similarity). Coreceptor with IL1R1 in the IL-1 signaling system. Associates with IL1R1 bound to IL1B to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Recruits TOLLIP to the signaling complex. Does not bind to interleukin-1 alone; binding of IL1RN to IL1R1, prevents its association with IL1R1 to form a signaling complex. The cellular response is modulated through a non-signaling association with the membrane IL1R2 decoy receptor. Coreceptor for IL1RL1 in the IL-33 signaling system.
Wiki Pathways
  • IL-1 signaling pathway
Pathway Interaction Database
  • IL1-mediated signaling events
  • p73 transcription factor network
Reactome
  • Interleukin-1 signaling
Pathway Studio
  • IL1R → NF-kB signaling
  • IL1R → STAT3 signaling
  • Nociception-related IL1B expression targets
  • Th17 Cell Differentiation

All locus annotations are based on the sentinel SNP (rs2193873) 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
  • IL1RAP interleukin 1 receptor accessory protein

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of HARS in peripheral blood monocytes 9.8×10-7 20502693 (PMID) GRASP2 eQTL
Asparagine:Trimethylamine N-oxide 2.8×10-5 21572414 (PMID) GRASP2 metabQTL