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

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Locus annotations

Locus 6

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 rs1024948 3:190,347,681 T/C 0.13 996 1.352 0.040 2.5×10-165 1.580 8×10-197 1.6×10-230
IL-1 R AcP cis Replication rs1024948 3:190,347,681 A/G 0.08 337 1.414 0.100 1×10-35 1.650 2.7×10-39 1×10-47

 

Regional association plots

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

Download the association data used to generate this plot

 

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 (rs1024948) and 23 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
  • IL1RAP interleukin 1 receptor accessory protein
  • GCNT1P3 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 3

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of IL1RAP in blood 7.7×10-22 21829388 (PMID) GRASP2 eQTL
Q9NPH3 protein abundance levels 8.8×10-13 22595970 (PMID) GRASP2 pQTL
Hip bone size (females) 1.3×10-6 18776929 (PMID) GRASP2 nonQTL
Body height 3.4×10-5 pha000341 (dbGaP) dbGaP via SNiPA