HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 53

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MCP-3 cis Discovery rs3138036 17:32,647,544 A/G 0.15 997 -1.000 0.052 1.8×10-69 -1.330 2×10-45 0.007
MCP-3 cis Replication rs3138040 17:32,652,854 A/G 0.29 337 -0.721 0.070 5.9×10-22 -1.270 6.1×10-13 0.318
MCP-2 cis Discovery rs3138036 17:32,647,544 A/G 0.15 997 -0.470 0.060 1.3×10-14 -1.050 8×10-5 0.023
MCP-2 cis Replication rs3138040 17:32,652,854 A/G 0.29 337 -0.183 0.073 0.013 -1.030 0.059 0.119

 

Regional association plots

 

Boxplots and histograms for top associations

C-C motif chemokine 7 (MCP-3)

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

C-C motif chemokine 8 (MCP-2)

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

C-C motif chemokine 7 (MCP-3)

Target (abbrv.) MCP-3
Target (full name) C-C motif chemokine 7
Somalogic ID (Sequence ID) SL000516 (4886-3_1)
Entrez Gene Symbol CCL7
UniProt ID P80098
UniProt Comment
  • Chemotactic factor that attracts monocytes and eosinophils, but not neutrophils. Augments monocyte anti-tumor activity. Also induces the release of gelatinase B. This protein can bind heparin. Binds to CCR1, CCR2 and CCR3.
Reactome
  • Chemokine receptors bind chemokines
Pathway Studio
  • CCR1 → STAT signaling
  • CCR2/5 → STAT signaling
  • CCR5 → TP53 signaling
  • Nociception-related CCR1 expression targets
  • Summarized nociception-related expression targets

C-C motif chemokine 8 (MCP-2)

Target (abbrv.) MCP-2
Target (full name) C-C motif chemokine 8
Somalogic ID (Sequence ID) SL000515 (2785-15_2)
Entrez Gene Symbol CCL8
UniProt ID P80075
UniProt Comment
  • Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils. May play a role in neoplasia and inflammatory host responses. This protein can bind heparin. The processed form MCP-2(6-76) does not show monocyte chemotactic activity, but inhibits the chemotactic effect most predominantly of CCL7, and also of CCL2 and CCL5 and CCL8.
Biomarker applications (based on IPA annotation)
  • unspecified application
Pathway Studio
  • CCR1 → STAT signaling
  • CCR2/5 → STAT signaling
  • CCR5 → TP53 signaling
  • Nociception-related CCR1 expression targets
  • Summarized nociception-related expression targets

All locus annotations are based on the sentinel SNP (rs3138036) and 22 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

 

Results from other genome-wide association studies

No associations available.