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

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Locus annotations

Locus 47

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Tenascin cis Discovery rs45602433 9:117,835,899 C/T 0.15 993 1.050 0.053 3.9×10-74 1.330 7.1×10-77 3.6×10-83
Tenascin cis Replication rs12342409 9:117,832,975 C/A 0.23 337 0.302 0.077 1.1×10-4 1.120 1×10-4 2.7×10-4

 

Regional association plots

 

Boxplots and histograms for top associations

Tenascin

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

Tenascin

Target (abbrv.) Tenascin
Target (full name) Tenascin
Somalogic ID (Sequence ID) SL003198 (4155-3_2)
Entrez Gene Symbol TNC
UniProt ID P24821
UniProt Comment
  • Extracellular matrix protein implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity as well as neuronal regeneration. Promotes neurite outgrowth from cortical neurons grown on a monolayer of astrocytes. Ligand for integrins alpha-8/beta-1, alpha-9/beta-1, alpha-V/beta-3 and alpha-V/beta-6.
Biomarker applications (based on IPA annotation)
  • diagnosis
  • response to therapy
Wiki Pathways
  • Focal Adhesion
Pathway Interaction Database
  • Alpha9 beta1 integrin signaling events
  • Beta1 integrin cell surface interactions
  • Beta3 integrin cell surface interactions
  • Syndecan-4-mediated signaling events
Reactome
  • ECM proteoglycans
  • Integrin cell surface interactions
  • Syndecan interactions

All locus annotations are based on the sentinel SNP (rs45602433) and 3 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
  • TNC tenascin C

 

Results from other genome-wide association studies

Trait P Study Source
P24821 protein abundance levels 1.5×10-17 22595970 (PMID) GRASP2 pQTL