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

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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


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Genes hit or close-by

 

Results from other genome-wide association studies


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No associations available.