HelmholtzZentrum munich
WCMC

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

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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