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WCMC

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

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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)

Download the association data used to generate this plot

 

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


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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