HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 435

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
DERM cis Discovery rs530022 1:168,675,971 G/A 0.40 996 -0.265 0.040 4.5×10-11 -1.050 5×10-10 1.3×10-7
DERM cis Replication rs580360 1:168,667,426 G/A 0.49 337 -0.244 0.061 7.5×10-5 -1.070 1.5×10-4 1.6×10-4

 

Regional association plots

 

Boxplots and histograms for top associations

Dermatopontin (DERM)

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

Dermatopontin (DERM)

Target (abbrv.) DERM
Target (full name) Dermatopontin
Somalogic ID (Sequence ID) SL008178 (4979-34_2)
Entrez Gene Symbol DPT
UniProt ID Q07507
UniProt Comment
  • Seems to mediate adhesion by cell surface integrin binding. May serve as a communication link between the dermal fibroblast cell surface and its extracellular matrix environment. Enhances TGFB1 activity. Inhibits cell proliferation. Accelerates collagen fibril formation, and stabilizes collagen fibrils against low-temperature dissociation (By similarity).

All locus annotations are based on the sentinel SNP (rs530022) and 9 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
  • DPT dermatopontin
Potentially regulated genes
eQTL genes
  • DPT dermatopontin

 

Results from other genome-wide association studies

Trait P Study Source
Serum ratio of (1,6-anhydroglucose)/(HWESASXX*) 3.3×10-4 21886157 (PMID) GRASP2 metabQTL
Serum concentration of aspartate 3.7×10-4 21886157 (PMID) GRASP2 metabQTL