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WCMC

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

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Locus annotations

Locus 168

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-18 Rb cis Discovery rs6543140 2:103,074,274 G/T 0.30 994 0.485 0.046 1×10-24 1.050 2.8×10-5 0.241
IL-18 Rb cis Replication rs10196334 2:103,090,041 A/G 0.27 337 0.203 0.060 0.001 1.050 0.008 0.069

 

Regional association plots

Interleukin-18 receptor accessory protein (IL-18 Rb)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Interleukin-18 receptor accessory protein (IL-18 Rb)

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

Interleukin-18 receptor accessory protein (IL-18 Rb)

Target (abbrv.) IL-18 Rb
Target (full name) Interleukin-18 receptor accessory protein
Somalogic ID (Sequence ID) SL004861 (2993-1_2)
Entrez Gene Symbol IL18RAP
UniProt ID O95256
UniProt Comment
  • Required for the high affinity binding of interleukin 18 (IL-18) to its receptor complex (By similarity). Together with IL18R1 mediates IL-18-dependent activation of NF-kappa-B and JNK.
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 (rs6543140) and 42 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
Potentially regulated genes
  • IL1R2 interleukin 1 receptor, type II
  • SLC9A2 solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2
  • SLC9A4 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of IL18RAP in blood 1.8×10-110 21829388 (PMID) GRASP2 eQTL
cg04239558 (chr2:103089753) 1.5×10-97 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of IL18RAP (probeID ILMN_1721762) in whole blood 5.2×10-37 22692066 (PMID) GRASP2 eQTL
Gene expression of IL18R1 in peripheral blood monocytes 6.6×10-10 20502693 (PMID) GRASP2 eQTL
Gene expression of RPN1 in peripheral blood monocytes 3.6×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of IL18RAP in blood cells in Celiac disease 6.6×10-6 19128478 (PMID) GRASP2 eQTL
cg14213517 (chr2:102972229) 2.2×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Serum ratio of (eicosapentaenoate (EPA; 20:5n3))/(glycerol 2-phosphate) 1.9×10-4 21886157 (PMID) GRASP2 metabQTL
Serum ratio of (3-methoxytyrosine)/(threonate) 3.4×10-4 21886157 (PMID) GRASP2 metabQTL
Alzheimer's disease 3.9×10-4 19734902 (PMID) GRASP2 nonQTL