HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 99

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Gro-a cis Discovery rs16845091 4:74,758,801 G/T 0.05 997 1.237 0.090 1.6×10-39 1.830 4.4×10-50 1×10-41
Gro-a cis Replication rs74544699 4:74,734,681 A/G 0.10 337 0.644 0.095 5.6×10-11 1.560 8.2×10-11 0.189

 

Regional association plots

Growth-regulated alpha protein (Gro-a)

 

Boxplots and histograms for top associations

Growth-regulated alpha protein (Gro-a)

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

Growth-regulated alpha protein (Gro-a)

Target (abbrv.) Gro-a
Target (full name) Growth-regulated alpha protein
Somalogic ID (Sequence ID) SL003173 (2985-35_1)
Entrez Gene Symbol CXCL1
UniProt ID P09341
UniProt Comment
  • Has chemotactic activity for neutrophils. May play a role in inflammation and exerts its effects on endothelial cells in an autocrine fashion. In vitro, the processed forms GRO-alpha(4-73), GRO-alpha(5-73) and GRO-alpha(6-73) show a 30-fold higher chemotactic activity.
Biomarker applications (based on IPA annotation)
  • disease progression
Wiki Pathways
  • Cytokines and Inflammatory Response
  • Senescence and Autophagy
Pathway Interaction Database
  • IL23-mediated signaling events
Reactome
  • Chemokine receptors bind chemokines
  • G alpha (i) signalling events
Pathway Studio
  • IL8R → CREB/EGR signaling

All locus annotations are based on the sentinel SNP (rs16845091) and 53 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
  • CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
  • HNRNPA1P55 heterogeneous nuclear ribonucleoprotein A1 pseudogene 55
  • CXCL1P chemokine (C-X-C motif) ligand 1 pseudogene
Potentially regulated genes
eQTL genes
  • PF4 platelet factor 4
  • CXCL6 chemokine (C-X-C motif) ligand 6

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of PF4V1 in peripheral blood monocytes 2.7×10-8 20502693 (PMID) GRASP2 eQTL
Gene expression of GAL3ST2 in peripheral blood monocytes 5.8×10-6 20502693 (PMID) GRASP2 eQTL
Serum ratio of (1-eicosatrienoylglycerophosphocholine*)/(biliverdin) 2.2×10-5 21886157 (PMID) GRASP2 metabQTL