HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 336

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
TIMP-3 cis Discovery rs5754249 22:33,147,526 A/G 0.43 997 0.320 0.043 1.7×10-13 1.170 1.1×10-12 1.7×10-8
TIMP-3 cis Replication rs5754249 22:33,147,526 A/G 0.47 337 0.172 0.057 0.003 1.140 0.001 2.3×10-4

 

Regional association plots

Metalloproteinase inhibitor 3 (TIMP-3)

 

Boxplots and histograms for top associations

Metalloproteinase inhibitor 3 (TIMP-3)

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

Metalloproteinase inhibitor 3 (TIMP-3)

Target (abbrv.) TIMP-3
Target (full name) Metalloproteinase inhibitor 3
Somalogic ID (Sequence ID) SL003043 (2480-58_3)
Entrez Gene Symbol TIMP3
UniProt ID P35625
UniProt Comment
  • Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15.
Biomarker applications (based on IPA annotation)
  • diagnosis
  • prognosis
  • unspecified application
Wiki Pathways
  • Angiogenesis
  • Endochondral Ossification
  • Matrix Metalloproteinases
Pathway Studio
  • Extracellular Matrix Turnover

All locus annotations are based on the sentinel SNP (rs5754249) 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

 

Results from other genome-wide association studies

No associations available.