HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 239

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IGFBP-7 cis Discovery rs2412776 4:57,951,468 A/G 0.19 995 0.443 0.052 5.5×10-17 1.070 3.5×10-15 8×10-12
IGFBP-7 cis Replication rs4508954 4:57,951,527 A/G 0.11 337 0.267 0.089 0.003 1.050 0.016 0.171

 

Regional association plots

Insulin-like growth factor-binding protein 7 (IGFBP-7)

 

Boxplots and histograms for top associations

Insulin-like growth factor-binding protein 7 (IGFBP-7)

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

Insulin-like growth factor-binding protein 7 (IGFBP-7)

Target (abbrv.) IGFBP-7
Target (full name) Insulin-like growth factor-binding protein 7
Somalogic ID (Sequence ID) SL005087 (3320-49_2)
Entrez Gene Symbol IGFBP7
UniProt ID Q16270
UniProt Comment
  • Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion.
Wiki Pathways
  • Senescence and Autophagy
Reactome
  • Senescence-Associated Secretory Phenotype (SASP)

All locus annotations are based on the sentinel SNP (rs2412776) and 11 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
  • UBE2CP3 ubiquitin-conjugating enzyme E2C pseudogene 3
  • IGFBP7 insulin-like growth factor binding protein 7
Potentially regulated genes
  • POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ITGB1BP1 in peripheral blood monocytes 3.6×10-7 20502693 (PMID) GRASP2 eQTL
Gene expression of CHCHD9 in peripheral blood monocytes 2.9×10-6 20502693 (PMID) GRASP2 eQTL
Obsessive-compulsive disorder (OCD) 2.8×10-4 22889921 (PMID) GRASP2 nonQTL