HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 23

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 rs2830585 21:28,305,212 C/T 0.16 996 -1.073 0.044 3.9×10-104 -1.210 1.2×10-42 3.3×10-7
ADAMTS-5 cis Replication rs2830586 21:28,305,477 A/C 0.12 337 -0.462 0.087 2×10-7 -1.100 0.001 0.162

 

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 (rs2830585) and 7 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

 

Results from other genome-wide association studies

Trait P Study Source
Serum metabolite (mass spec peak: 297.1 m/z) 3.4×10-8 23281178 (PMID) GRASP2 metabQTL
Height 4.8×10-5 25282103 (PMID) Supplemental file
Allele-specific Expression Patterns in human glioblastoma cell line U87MG 2.1×10-4 22467206 (PMID) GRASP2 eQTL