HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 426

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 rs7896471 10:101,788,308 G/T 0.04 997 -0.750 0.112 3.4×10-11 -1.230 8.9×10-9 1.6×10-5
MMP-8 trans Replication rs74707016 10:101,792,462 G/A 0.06 337 -0.245 0.152 0.108 -1.080 0.09 0.117

 

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 (rs7896471) 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

 

Results from other genome-wide association studies

No associations available.