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

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Locus annotations

Locus 383

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ADAMTS-5 cis Discovery rs229100 21:28,223,092 C/T 0.18 996 0.366 0.052 2.9×10-12 1.060 2.2×10-5 0.058
ADAMTS-5 cis Replication rs229100 21:28,223,092 G/A 0.22 337 0.255 0.070 3.3×10-4 1.030 0.133 0.869

 

Regional association plots

A disintegrin and metalloproteinase with thrombospondin motifs 5 (ADAMTS-5)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

A disintegrin and metalloproteinase with thrombospondin motifs 5 (ADAMTS-5)

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

A disintegrin and metalloproteinase with thrombospondin motifs 5 (ADAMTS-5)

Target (abbrv.) ADAMTS-5
Target (full name) A disintegrin and metalloproteinase with thrombospondin motifs 5
Somalogic ID (Sequence ID) SL004626 (3168-8_2)
Entrez Gene Symbol ADAMTS5
UniProt ID Q9UNA0
UniProt Comment
  • Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important role in the destruction of aggrecan in arthritic diseases. May play a role in proteolytic processing mostly during the peri-implantation period.
Wiki Pathways
  • Endochondral Ossification
Reactome
  • Degradation of the extracellular matrix
  • O-glycosylation of TSR domain-containing proteins

All locus annotations are based on the sentinel SNP (rs229100) and 2 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
  • ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1