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

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Locus annotations

Locus 33

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MIP-5 cis Discovery rs7221769 17:34,334,448 T/C 0.07 997 1.520 0.067 3.6×10-93 1.730 3.5×10-146 1.9×10-182
MIP-5 cis Replication rs78834229 17:34,330,411 G/A 0.06 337 1.054 0.121 1.2×10-16 1.490 3.2×10-18 9.9×10-18
HCC-1 cis Discovery rs7221769 17:34,334,448 T/C 0.07 997 0.581 0.080 6×10-13 1.150 1.5×10-11 2.1×10-11
HCC-1 cis Replication rs78834229 17:34,330,411 G/A 0.06 337 0.202 0.127 0.113 1.090 0.086 0.029

 

Regional association plots

 

Boxplots and histograms for top associations

C-C motif chemokine 15 (MIP-5)

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

C-C motif chemokine 14 (HCC-1)

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

C-C motif chemokine 15 (MIP-5)

Target (abbrv.) MIP-5
Target (full name) C-C motif chemokine 15
Somalogic ID (Sequence ID) SL003190 (3509-1_1)
Entrez Gene Symbol CCL15
UniProt ID Q16663
UniProt Comment
  • Chemotactic factor that attracts T-cells and monocytes, but not neutrophils, eosinophils, or B-cells. Acts mainly via CC chemokine receptor CCR1. Also binds to CCR3. CCL15(22-92), CCL15(25-92) and CCL15(29-92) are more potent chemoattractants than the small-inducible cytokine A15.
Pathway Studio
  • CCR1 → STAT signaling
  • Nociception-related CCR1 expression targets
  • Summarized nociception-related expression targets

C-C motif chemokine 14 (HCC-1)

Target (abbrv.) HCC-1
Target (full name) C-C motif chemokine 14
Somalogic ID (Sequence ID) SL003329 (2900-53_3)
Entrez Gene Symbol CCL14
UniProt ID Q16627
UniProt Comment
  • Has weak activities on human monocytes and acts via receptors that also recognize MIP-1 alpha. It induced intracellular Ca(2+) changes and enzyme release, but no chemotaxis, at concentrations of 100-1,000 nM, and was inactive on T-lymphocytes, neutrophils, and eosinophil leukocytes. Enhances the proliferation of CD34 myeloid progenitor cells. The processed form HCC-1(9-74) is a chemotactic factor that attracts monocytes eosinophils, and T-cells and is a ligand for CCR1, CCR3 and CCR5.
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 (rs7221769) and 43 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
Potentially regulated genes

 

Results from other genome-wide association studies

Trait P Study Source
cg10439431 (chr17:34345196) 6.5×10-14 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg14916288 (chr17:34345160) 2.8×10-8 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of CCL14 in liver 2.8×10-8 18462017 (PMID) GRASP2 eQTL
Gene expression of CCL15 in liver 4.4×10-8 18462017 (PMID) GRASP2 eQTL
cg23743114 (chr17:34328372) 9×10-8 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Q16663 protein abundance levels 2×10-5 22595970 (PMID) GRASP2 pQTL
cg03409272 (chr17:34330080) 6.1×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs