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

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Locus annotations

Locus 193

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 rs241890 22:33,242,162 G/T 0.19 994 -0.500 0.053 2.6×10-20 -1.270 1.1×10-18 1.3×10-11
TIMP-3 cis Replication rs241890 22:33,242,162 C/A 0.30 337 -0.307 0.064 2×10-6 -1.280 2.5×10-8 9.7×10-9

 

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 (rs241890).
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
Gene expression of MLF1IP in peripheral blood monocytes 2.7×10-6 20502693 (PMID) GRASP2 eQTL
Bipolar disorder vs. Schizophrenia 7×10-5 24280982 (PMID) Supplemental file