HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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)

 

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
eQTL genes
  • GABPA GA binding protein transcription factor, alpha subunit 60kDa

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of TUBGCP5 in peripheral blood monocytes 2.9×10-7 20502693 (PMID) GRASP2 eQTL