HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 123

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MMP-8 trans Discovery rs9283893 6:31,897,219 G/A 0.04 997 1.199 0.097 1.2×10-32 1.470 3.8×10-34 1.3×10-26
MMP-8 trans Replication rs9283893 6:31,897,219 G/A 0.15 337 1.008 0.082 1.6×10-28 1.340 1.2×10-28 5.6×10-30

 

Regional association plots

 

Boxplots and histograms for top associations

Neutrophil collagenase (MMP-8)

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

Neutrophil collagenase (MMP-8)

Target (abbrv.) MMP-8
Target (full name) Neutrophil collagenase
Somalogic ID (Sequence ID) SL000526 (2954-56_2)
Entrez Gene Symbol MMP8
UniProt ID P22894
UniProt Comment
  • Can degrade fibrillar type I, II, and III collagens.
Targeted by drugs (based on IPA annotation)
  • marimastat
Biomarker applications (based on IPA annotation)
  • efficacy

All locus annotations are based on the sentinel SNP (rs9283893) and 5 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
  • C2 complement component 2
  • XXbac-BPG116M5.17
  • SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
  • NELFE negative elongation factor complex member E
  • MIR1236 microRNA 1236
  • DXO decapping exoribonuclease
  • STK19 serine/threonine kinase 19
eQTL genes
  • SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of MICA in peripheral blood monocytes 6.4×10-8 20502693 (PMID) GRASP2 eQTL
Gene expression of LSM2 in peripheral blood monocytes 1.9×10-7 20502693 (PMID) GRASP2 eQTL
Gene expression of NOTCH4 in peripheral blood monocytes 2.2×10-6 20502693 (PMID) GRASP2 eQTL
Ulcerative collitis 1.1×10-4 Supplemental file

Possible link between cis-variants and protein levels of MMP8.

This locus harbours a replicated trans-pQTL to Neutrophil collagenase (MMP8).

The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.