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WCMC

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

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Locus annotations

Locus 396

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MFGM cis Discovery rs3743392 15:89,445,651 A/G 0.32 997 -0.315 0.045 4.8×10-12 -1.090 8.9×10-9 0.802
MFGM cis Replication rs8039131 15:89,436,295 G/A 0.34 337 -0.151 0.047 0.001 -1.070 0.001 0.032

 

Regional association plots

 

Boxplots and histograms for top associations

Lactadherin (MFGM)

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

Lactadherin (MFGM)

Target (abbrv.) MFGM
Target (full name) Lactadherin
Somalogic ID (Sequence ID) SL006523 (4455-89_2)
Entrez Gene Symbol MFGE8
UniProt ID Q08431
UniProt Comment
  • Plays an important role in the maintenance of intestinal epithelial homeostasis and the promotion of mucosal healing. Promotes VEGF-dependent neovascularization (By similarity). Contributes to phagocytic removal of apoptotic cells in many tissues. Specific ligand for the alpha-v/beta-3 and alpha-v/beta-5 receptors. Also binds to phosphatidylserine-enriched cell surfaces in a receptor-independent manner. Zona pellucida-binding protein which may play a role in gamete interaction. Binds specifically to rotavirus and inhibits its replication.
Pathway Interaction Database
  • Integrins in angiogenesis
  • Validated transcriptional targets of TAp63 isoforms
Reactome
  • Amyloids

All locus annotations are based on the sentinel SNP (rs3743392) and 13 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
  • HAPLN3 hyaluronan and proteoglycan link protein 3
  • MFGE8 milk fat globule-EGF factor 8 protein
Potentially regulated genes
  • MFGE8 milk fat globule-EGF factor 8 protein
eQTL genes
  • HAPLN3 hyaluronan and proteoglycan link protein 3
  • MFGE8 milk fat globule-EGF factor 8 protein

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of MFGE8 in blood 6.6×10-9 21829388 (PMID) GRASP2 eQTL
Height 1.8×10-8 25282103 (PMID) Supplemental file
Hypertension, combined control dataset 4.3×10-5 17554300 (PMID) GRASP2 nonQTL