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WCMC

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

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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


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Genes hit or close-by
  • MMP7 matrix metallopeptidase 7
eQTL genes
  • MMP7 matrix metallopeptidase 7

 

Results from other genome-wide association studies


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No associations available.