HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 316

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MMP-7 cis Discovery rs11568819 11:102,401,633 G/A 0.07 994 0.668 0.088 5.8×10-14 1.210 1.1×10-13 3.5×10-13

 

Regional association plots

 

Boxplots and histograms for top associations

Matrilysin (MMP-7)

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

Matrilysin (MMP-7)

Target (abbrv.) MMP-7
Target (full name) Matrilysin
Somalogic ID (Sequence ID) SL000525 (2789-26_2)
Entrez Gene Symbol MMP7
UniProt ID P09237
UniProt Comment
  • Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase.
Targeted by drugs (based on IPA annotation)
  • marimastat
Biomarker applications (based on IPA annotation)
  • diagnosis
Wiki Pathways
  • Matrix Metalloproteinases
  • Wnt Signaling Pathway and Pluripotency
Pathway Interaction Database
  • Posttranslational regulation of adherens junction stability and dissassembly
  • Syndecan-1-mediated signaling events
  • p75(NTR)-mediated signaling
Reactome
  • Activation of Matrix Metalloproteinases
  • Assembly of collagen fibrils and other multimeric structures
  • Collagen degradation
  • Degradation of the extracellular matrix

All locus annotations are based on the sentinel SNP (rs11568819) and 1 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
  • MMP7 matrix metallopeptidase 7
eQTL genes
  • MMP7 matrix metallopeptidase 7

 

Results from other genome-wide association studies

No associations available.