HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 343

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
DKK3 cis Discovery rs11022119 11:12,050,652 G/A 0.28 992 0.330 0.045 2.8×10-13 1.070 1.3×10-12 1.1×10-11
DKK3 cis Replication rs11022114 11:12,038,874 G/A 0.22 337 0.278 0.081 0.001 1.050 0.003 0.03

 

Regional association plots

 

Boxplots and histograms for top associations

Dickkopf-related protein 3 (DKK3)

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

Dickkopf-related protein 3 (DKK3)

Target (abbrv.) DKK3
Target (full name) Dickkopf-related protein 3
Somalogic ID (Sequence ID) SL009412 (3607-71_1)
Entrez Gene Symbol DKK3
UniProt ID Q9UBP4
UniProt Comment
  • Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity).

All locus annotations are based on the sentinel SNP (rs11022119) and 1 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
Potentially regulated genes
eQTL genes
  • DKK3 dickkopf WNT signaling pathway inhibitor 3
  • USP47 ubiquitin specific peptidase 47

 

Results from other genome-wide association studies

Trait P Study Source
Weight in Type 2 diabetes 2.2×10-4 17463246 (PMID) GRASP2 nonQTL