HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 376

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MSP cis Discovery rs9869826 3:50,998,816 T/C 0.09 987 -0.542 0.076 1.8×10-12 -1.420 3.9×10-12 2.1×10-15
MSP cis Replication rs1540293 3:50,463,935 G/A 0.09 337 -0.131 0.135 0.333 -1.150 0.147 0.133

 

Regional association plots

Hepatocyte growth factor-like protein (MSP)

 

Boxplots and histograms for top associations

Hepatocyte growth factor-like protein (MSP)

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

Hepatocyte growth factor-like protein (MSP)

Target (abbrv.) MSP
Target (full name) Hepatocyte growth factor-like protein
Somalogic ID (Sequence ID) SL005202 (4407-10_1)
Entrez Gene Symbol MST1
UniProt ID P26927
UniProt Comment
  • Dimer of an alpha chain and a beta chain linked by a disulfide bond. Interacts (via beta chain) with MST1R (via SEMA domain).
Pathway Interaction Database
  • FoxO family signaling
  • a6b1 and a6b4 Integrin signaling
  • amb2 Integrin signaling

All locus annotations are based on the sentinel SNP (rs9869826) and 12 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
  • MAPKAPK3 mitogen-activated protein kinase-activated protein kinase 3
  • DOCK3 dedicator of cytokinesis 3
  • ST13P14 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 14
eQTL genes
  • HYAL3 hyaluronoglucosaminidase 3
  • NAT6 N-acetyltransferase 6 (GCN5-related)
  • MAPKAPK3 mitogen-activated protein kinase-activated protein kinase 3
  • WDR6 WD repeat domain 6
  • C3orf62 chromosome 3 open reading frame 62
  • USP4 ubiquitin specific peptidase 4 (proto-oncogene)
  • RPL29 ribosomal protein L29

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of USP4 in peripheral blood monocytes 4.5×10-17 20502693 (PMID) GRASP2 eQTL
Gene expression of HYAL3 in peripheral blood monocytes 8.7×10-10 20502693 (PMID) GRASP2 eQTL
Gene expression of WDR6 in peripheral blood monocytes 1.4×10-9 20502693 (PMID) GRASP2 eQTL
Gene expression of MAPKAPK3 in peripheral blood monocytes 2.2×10-7 20502693 (PMID) GRASP2 eQTL
Serum ratio of (2-methylbutyroylcarnitine)/(docosapentaenoate (n3 DPA; 22:5n3)) 5.3×10-7 21886157 (PMID) GRASP2 metabQTL
Weight loss after gastric bypass surgery 6.9×10-5 23633212 (PMID) GRASP2 nonQTL