HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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

 

Results from other genome-wide association studies

Trait P Study Source
cg20487452 (chr11:102745658) 8.4×10-18 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Local histogram emphysema pattern 1×10-8 25006744 (PMID) GWAS Catalog via SNiPA
Differential exon level expression of MMP1 [probe 3388825] in brain cortex 3.1×10-5 19222302 (PMID) GRASP2 eQTL
Type 2 diabetes, gender differentiated 2×10-4 17554300 (PMID) GRASP2 nonQTL
Rheumatoid arthritis 2.7×10-4 17554300 (PMID) GRASP2 nonQTL