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

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Locus annotations

Locus 431

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 rs3788504 22:33,160,397 C/T 0.12 994 -0.454 0.068 3.9×10-11 -1.250 5.8×10-11 2.2×10-8
TIMP-3 cis Replication rs3788504 22:33,160,397 G/A 0.05 337 -0.261 0.134 0.053 -1.280 0.006 0.002

 

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 (rs3788504).
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
Height 6.5×10-5 25282103 (PMID) Supplemental file