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WCMC

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

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Locus annotations

Locus 129

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MMP-1 cis Discovery rs484915 11:102,673,248 A/T 0.45 994 0.503 0.042 2.1×10-30 1.230 5.2×10-26 0.002
MMP-1 cis Replication rs534191 11:102,671,697 G/A 0.34 337 0.335 0.065 5.4×10-7 1.180 3.1×10-7 6.3×10-7

 

Regional association plots

 

Boxplots and histograms for top associations

Interstitial collagenase (MMP-1)

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

Interstitial collagenase (MMP-1)

Target (abbrv.) MMP-1
Target (full name) Interstitial collagenase
Somalogic ID (Sequence ID) SL000521 (4924-32_1)
Entrez Gene Symbol MMP1
UniProt ID P03956
UniProt Comment
  • Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X. In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tat's mediated neurotoxicity.
Targeted by drugs (based on IPA annotation)
  • marimastat
Biomarker applications (based on IPA annotation)
  • diagnosis
  • efficacy
  • safety
Wiki Pathways
  • Integrated Breast Cancer Pathway
  • Integrated Cancer pathway
  • Matrix Metalloproteinases
Pathway Interaction Database
  • AP-1 transcription factor network
  • Endothelins
  • Glucocorticoid receptor regulatory network
  • Syndecan-1-mediated signaling events
  • Validated transcriptional targets of AP1 family members Fra1 and Fra2
Reactome
  • Activation of Matrix Metalloproteinases
  • Basigin interactions
  • Collagen degradation
  • Degradation of the extracellular matrix
  • Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Pathway Studio
  • Nociception-related CCR1 expression targets
  • Summarized nociception-related expression targets

All locus annotations are based on the sentinel SNP (rs484915) 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
Potentially regulated genes
eQTL genes
  • MMP1 matrix metallopeptidase 1
  • WTAPP1 Wilms tumor 1 associated protein pseudogene 1

 

Results from other genome-wide association studies

Trait P Study Source
cg25478299 (chr11:102638645) 7.9×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs