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

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Locus annotations

Locus 27

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 rs2097326 22:33,165,020 A/G 0.28 992 0.931 0.040 4.4×10-97 1.590 2.7×10-100 1.8×10-75
TIMP-3 cis Replication rs2097326 22:33,165,020 A/G 0.30 337 0.587 0.054 8.5×10-24 1.530 6.1×10-28 1.6×10-22

 

Regional association plots

Metalloproteinase inhibitor 3 (TIMP-3)

Download the association data used to generate this plot

 

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 (rs2097326) and 18 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

 

Results from other genome-wide association studies

Trait P Study Source
cg27221424 (chr22:33196127) 2.3×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
P35625 protein abundance levels 1.1×10-4 22595970 (PMID) GRASP2 pQTL
Coronary artery disease (CAD) 1.1×10-4 23202125 (PMID) GRASP2 nonQTL
Coronary artery disease and myocardial infarction 1.1×10-4 23202125 (PMID) Supplemental file