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

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Locus annotations

Locus 103

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
bFGF cis Discovery rs308403 4:123,757,748 C/T 0.32 996 -0.590 0.043 5.8×10-39 -1.340 2.4×10-16 0.029
bFGF cis Replication rs308403 4:123,757,748 G/A 0.47 337 -0.386 0.068 3.7×10-8 -1.280 0.001 0.994

 

Regional association plots

 

Boxplots and histograms for top associations

Fibroblast growth factor 2 (bFGF)

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

Fibroblast growth factor 2 (bFGF)

Target (abbrv.) bFGF
Target (full name) Fibroblast growth factor 2
Somalogic ID (Sequence ID) SL000004 (3025-50_1)
Entrez Gene Symbol FGF2
UniProt ID P09038
UniProt Comment
  • Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as potent mitogen in vitro.
Targeted by drugs (based on IPA annotation)
  • pentosan polysulfate
  • suradista
  • sucralfate
Biomarker applications (based on IPA annotation)
  • diagnosis
  • efficacy
  • prognosis
Wiki Pathways
  • Angiogenesis
  • Endochondral Ossification
  • Lymphocyte TarBase
  • MicroRNAs in cardiomyocyte hypertrophy
  • Muscle cell TarBase
  • Neural Crest Differentiation
  • Regulation of Actin Cytoskeleton
  • Squamous cell TarBase
Pathway Interaction Database
  • Angiopoietin receptor Tie2-mediated signaling
  • FGF signaling pathway
  • Glypican 1 network
  • Integrins in angiogenesis
  • Syndecan-4-mediated signaling events
Reactome
  • Activated point mutants of FGFR2
  • Constitutive Signaling by Aberrant PI3K in Cancer
  • FGFR1b ligand binding and activation
  • FGFR1c ligand binding and activation
  • FGFR2b ligand binding and activation
  • FGFR2c ligand binding and activation
  • FGFR3 mutant receptor activation
  • FGFR3c ligand binding and activation
  • FGFR4 ligand binding and activation
  • FRS-mediated FGFR1 signaling
  • FRS-mediated FGFR2 signaling
  • FRS-mediated FGFR3 signaling
  • FRS2-mediated FGFR4 signaling
  • Negative regulation of FGFR1 signaling
  • Negative regulation of FGFR2 signaling
  • Negative regulation of FGFR3 signaling
  • Negative regulation of FGFR4 signaling
  • Non-integrin membrane-ECM interactions
  • PI-3K cascade:FGFR1
  • PI-3K cascade:FGFR2
  • PI-3K cascade:FGFR3
  • PI-3K cascade:FGFR4
  • PI3K Cascade
  • PIP3 activates AKT signaling
  • POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
  • Phospholipase C-mediated cascade, FGFR2
  • Phospholipase C-mediated cascade, FGFR3
  • Phospholipase C-mediated cascade, FGFR4
  • Phospholipase C-mediated cascade: FGFR1
  • SHC-mediated cascade:FGFR1
  • SHC-mediated cascade:FGFR2
  • SHC-mediated cascade:FGFR3
  • SHC-mediated cascade:FGFR4
  • Signaling by FGFR1 mutants
  • Signaling by FGFR2 mutants
  • Signaling by FGFR3 mutants
  • Signaling by FGFR4 mutants
  • Signaling by activated point mutants of FGFR1
  • Signaling by activated point mutants of FGFR3
  • Syndecan interactions
Pathway Studio
  • FGFR → AP-1/CREB/CREBBP/ELK-SRF/MYC signaling
  • FGFR → RUNX2 signaling
  • FGFR1 → STAT signaling
  • FGFR3 → STAT signaling
  • Nociception-related IL1B expression targets

All locus annotations are based on the sentinel SNP (rs308403) 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


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Genes hit or close-by
eQTL genes
  • FGF2 fibroblast growth factor 2 (basic)
  • CETN4P centrin EF-hand protein 4, pseudogene

 

Results from other genome-wide association studies

Trait P Study Source
cg04332818 (chr4:123747726) 3.3×10-103 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg24683623 (chr4:123747471) 2.7×10-44 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg03941587 (chr4:123747610) 6.5×10-9 10.1101/033084 (DOI) BIOS QTL cis-meQTLs