HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 55

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-12 Rb1 cis Discovery rs376008 19:18,189,568 C/T 0.34 994 -0.757 0.040 6.3×10-69 -1.100 7×10-15 0.059
IL-12 Rb1 cis Replication rs429774 19:18,186,752 A/G 0.27 337 -0.344 0.063 9.7×10-8 -1.070 8.6×10-5 0.025

 

Regional association plots

Interleukin-12 receptor subunit beta-1 (IL-12 Rb1)

 

Boxplots and histograms for top associations

Interleukin-12 receptor subunit beta-1 (IL-12 Rb1)

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

Interleukin-12 receptor subunit beta-1 (IL-12 Rb1)

Target (abbrv.) IL-12 Rb1
Target (full name) Interleukin-12 receptor subunit beta-1
Somalogic ID (Sequence ID) SL004148 (2632-5_2)
Entrez Gene Symbol IL12RB1
UniProt ID P42701
UniProt Comment
  • Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade.
Pathway Interaction Database
  • IL12-mediated signaling events
  • IL23-mediated signaling events
  • IL27-mediated signaling events
Pathway Studio
  • CD8+ T-cell Activation
  • IL12R → NF-kB/NFATC signaling
  • IL12R → STAT signaling
  • Th1 Cell Differentiation
  • Th17 Cell Differentiation

All locus annotations are based on the sentinel SNP (rs376008) and 20 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
  • IL12RB1 interleukin 12 receptor, beta 1
eQTL genes
  • IL12RB1 interleukin 12 receptor, beta 1

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of IL12RB1 in blood 1.2×10-24 21829388 (PMID) GRASP2 eQTL
Gene expression of IL12RB1 in peripheral blood monocytes 4.5×10-8 20502693 (PMID) GRASP2 eQTL
Gene expression of CHRM4 in peripheral blood monocytes 6.8×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of MAST3 [probe 213045_at] in prefrontal cortex 2.2×10-5 20351726 (PMID) GRASP2 eQTL
Gene expression of IL12RB1 in CD4+ lymphocytes 3.3×10-5 20833654 (PMID) GRASP2 eQTL