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

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Locus annotations

Locus 178

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IGFBP-3 cis Discovery rs2949833 7:45,984,820 C/T 0.29 993 0.428 0.043 2.6×10-22 1.100 1.2×10-18 2×10-19
IGFBP-3 cis Replication rs2949833 7:45,984,820 G/A 0.31 337 0.291 0.071 6×10-5 1.090 2.9×10-4 4.5×10-5
IGF-I trans Discovery rs2949833 7:45,984,820 C/T 0.29 993 0.320 0.045 3×10-12 1.050 3×10-10 2.2×10-8
IGF-I trans Replication rs2949833 7:45,984,820 G/A 0.31 337 0.147 0.052 0.005 1.050 0.003 0.006

 

Regional association plots

Insulin-like growth factor-binding protein 3 (IGFBP-3)

Download the association data used to generate this plot

Insulin-like growth factor I (IGF-I)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Insulin-like growth factor-binding protein 3 (IGFBP-3)

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

Insulin-like growth factor I (IGF-I)

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

Insulin-like growth factor-binding protein 3 (IGFBP-3)

Target (abbrv.) IGFBP-3
Target (full name) Insulin-like growth factor-binding protein 3
Somalogic ID (Sequence ID) SL000045 (2571-12_3)
Entrez Gene Symbol IGFBP3
UniProt ID P17936
UniProt Comment
  • IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Also exhibits IGF-independent antiproliferative and apoptotic effects mediated by its receptor TMEM219/IGFBP-3R.
Biomarker applications (based on IPA annotation)
  • diagnosis
  • disease progression
  • efficacy
  • prognosis
  • safety
Wiki Pathways
  • Myometrial Relaxation and Contraction Pathways
Pathway Interaction Database
  • Direct p53 effectors
  • Validated transcriptional targets of TAp63 isoforms
  • Validated transcriptional targets of deltaNp63 isoforms
Reactome
  • Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

Insulin-like growth factor I (IGF-I)

Target (abbrv.) IGF-I
Target (full name) Insulin-like growth factor I
Somalogic ID (Sequence ID) SL000047 (2952-75_2)
Entrez Gene Symbol IGF1
UniProt ID P05019
UniProt Comment
  • The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation (PubMed:21076856, PubMed:24132240). Ca(2+)-dependent exocytosis of IGF1 is required for sensory perception of smell in the olfactory bulb (By similarity).
Biomarker applications (based on IPA annotation)
  • diagnosis
  • efficacy
  • prognosis
  • safety
Wiki Pathways
  • Adipogenesis
  • Apoptosis
  • Endochondral Ossification
  • Focal Adhesion
  • MicroRNAs in cardiomyocyte hypertrophy
  • Senescence and Autophagy
  • TarBasePathway
Reactome
  • IRS-related events triggered by IGF1R
  • Platelet degranulation
  • Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
  • SHC-related events triggered by IGF1R
  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
  • Synthesis, secretion, and deacylation of Ghrelin
Pathway Studio
  • IGF1R → CEBPA/FOXO1A signaling
  • IGF1R → ELK-SRF/HIF1A/MYC/SREBF signaling
  • IGF1R → MEF/MYOD/MYOG signaling
  • IGF1R → STAT signaling

All locus annotations are based on the sentinel SNP (rs2949833) and 1 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