HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 386

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-18 Ra cis Discovery rs9646944 2:102,865,875 G/C 0.20 996 -0.366 0.052 3.2×10-12 -1.090 1.1×10-11 1.2×10-6
IL-18 Ra cis Replication rs10178214 2:102,858,921 C/A 0.23 337 -0.225 0.068 0.001 -1.080 0.002 0.003

 

Regional association plots

Interleukin-18 receptor 1 (IL-18 Ra)

 

Boxplots and histograms for top associations

Interleukin-18 receptor 1 (IL-18 Ra)

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

Interleukin-18 receptor 1 (IL-18 Ra)

Target (abbrv.) IL-18 Ra
Target (full name) Interleukin-18 receptor 1
Somalogic ID (Sequence ID) SL004152 (3446-7_2)
Entrez Gene Symbol IL18R1
UniProt ID Q13478
UniProt Comment
  • Receptor for interleukin 18 (IL-18). Binding to the agonist leads to the activation of NF-kappa-B.
Pathway Interaction Database
  • IL12 signaling mediated by STAT4
  • IL12-mediated signaling events
  • IL23-mediated signaling events
Pathway Studio
  • Th1 Cell Differentiation

All locus annotations are based on the sentinel SNP (rs9646944) 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

Genes hit or close-by
  • IL1RL2 interleukin 1 receptor-like 2
  • FAM183DP family with sequence similarity 183, member D, pseudogene
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of IL18RAP in blood 5.9×10-46 21829388 (PMID) GRASP2 eQTL
cg18224468 (chr2:102862104) 8.1×10-13 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of IL1RL1 (probeID ILMN_2242900) in temporal cortex in Alzheimer's disease cases and controls 2×10-9 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2313672) in temporal cortex in Alzheimer's disease cases and controls 4.3×10-8 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2242900) in cerebellum in Alzheimer's disease cases and controls 4.1×10-7 22685416 (PMID) GRASP2 eQTL
Gene expression of IL1RL1 (probeID ILMN_2313672) in cerebellum in Alzheimer's disease cases and controls 1.6×10-6 22685416 (PMID) GRASP2 eQTL
Gene expression of IL18RAP in blood cells in Celiac disease 4.6×10-5 19128478 (PMID) GRASP2 eQTL
Gene expression of IL18R1 in blood 8.2×10-5 21829388 (PMID) GRASP2 eQTL
Asthma 1.3×10-4 20860503 (PMID) GRASP2 nonQTL
Serum ratio of (1-stearoylglycerophosphoinositol)/(deoxycholate) 1.6×10-4 21886157 (PMID) GRASP2 metabQTL