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

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Locus annotations

Locus 272

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
gp130, soluble cis Discovery rs7730934 5:55,266,512 G/A 0.11 993 0.561 0.070 2.6×10-15 1.070 1.1×10-14 4.1×10-15
gp130, soluble cis Replication rs11741953 5:55,267,814 A/G 0.14 337 0.482 0.070 2.9×10-11 1.080 5.4×10-6 2.9×10-7

 

Regional association plots

Interleukin-6 receptor subunit beta (gp130, soluble)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Interleukin-6 receptor subunit beta (gp130, soluble)

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

Interleukin-6 receptor subunit beta (gp130, soluble)

Target (abbrv.) gp130, soluble
Target (full name) Interleukin-6 receptor subunit beta
Somalogic ID (Sequence ID) SL003872 (2620-4_2)
Entrez Gene Symbol IL6ST
UniProt ID P40189
UniProt Comment
  • Signal-transducing molecule. The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6ST homodimerization and formation of a high-affinity receptor complex, which activates Janus kinases (PubMed:2261637). That causes phosphorylation of IL6ST tyrosine residues which in turn activates STAT3 (PubMed:19915009, PubMed:23294003). Mediates signals which regulate immune response, hematopoiesis, pain control and bone metabolism (By similarity). Has a role in embryonic development (By similarity). Does not bind IL6 (PubMed:2261637). Essential for survival of motor and sensory neurons and for differentiation of astrocytes (By similarity). Required for expression of TRPA1 in nociceptive neurons (By similarity). Required for the maintenance of PTH1R expression in the osteoblast lineage and for the stimulation of PTH-induced osteoblast differentiation (By similarity). Required for normal trabecular bone mass and cortical bone composition (By similarity).
Biomarker applications (based on IPA annotation)
  • unspecified application
Wiki Pathways
  • Adipogenesis
  • IL-6 signaling pathway
  • MicroRNAs in cardiomyocyte hypertrophy
  • Physiological and Pathological Hypertrophy of the Heart
  • Senescence and Autophagy
Pathway Interaction Database
  • IL27-mediated signaling events
  • IL6-mediated signaling events
  • SHP2 signaling
Reactome
  • ERK1 activation
  • ERK2 activation
  • Interleukin-6 signaling
Pathway Studio
  • CNTFR → STAT3 signaling
  • IL11R → STAT3 signaling
  • IL6R → CEBP/ELK-SRF signaling
  • IL6R → STAT signaling
  • IL6ST → STAT5B signaling
  • LIFR → STAT5A signaling
  • Nociception-related IL6 expression targets
  • OncostatinR → STAT3 signaling
  • Th17 Cell Differentiation

All locus annotations are based on the sentinel SNP (rs7730934) and 54 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
eQTL genes
  • IL6ST interleukin 6 signal transducer

 

Results from other genome-wide association studies

Trait P Study Source
cg19678610 (chr5:55529399) 8.2×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs