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WCMC

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

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Locus annotations

Locus 107

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MMP-12 cis Discovery rs17368582 11:102,738,075 T/C 0.12 997 -0.744 0.056 1.5×10-37 -1.350 7.6×10-32 1.2×10-9
MMP-12 cis Replication rs72983508 11:102,727,409 C/A 0.08 337 -0.680 0.109 1.4×10-9 -1.370 9.7×10-9 3.5×10-4

 

Regional association plots

 

Boxplots and histograms for top associations

Macrophage metalloelastase (MMP-12)

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

Macrophage metalloelastase (MMP-12)

Target (abbrv.) MMP-12
Target (full name) Macrophage metalloelastase
Somalogic ID (Sequence ID) SL000522 (4496-60_2)
Entrez Gene Symbol MMP12
UniProt ID P39900
UniProt Comment
  • May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3.
Targeted by drugs (based on IPA annotation)
  • marimastat
Biomarker applications (based on IPA annotation)
  • efficacy
  • unspecified application
Pathway Interaction Database
  • Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling
Reactome
  • Collagen degradation
  • Degradation of the extracellular matrix

All locus annotations are based on the sentinel SNP (rs17368582) and 19 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
  • MMP3 matrix metallopeptidase 3
  • MMP12 matrix metallopeptidase 12
  • BOLA3P1 bolA family member 3 pseudogene 1
  • RNU7-159P RNA, U7 small nuclear 159 pseudogene
Potentially regulated genes