HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 250

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Hemopexin trans Discovery rs10754218 1:197,165,014 A/G 0.31 993 0.400 0.048 3.2×10-16 1.270 2.5×10-17 1.7×10-14
Hemopexin trans Replication rs10754218 1:197,165,014 A/G 0.36 337 0.254 0.076 0.001 1.190 2.2×10-4 0.002

 

Regional association plots

 

Boxplots and histograms for top associations

Hemopexin

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

Hemopexin

Target (abbrv.) Hemopexin
Target (full name) Hemopexin
Somalogic ID (Sequence ID) SL000440 (2768-56_2)
Entrez Gene Symbol HPX
UniProt ID P02790
UniProt Comment
  • Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to the circulation.
Reactome
  • Scavenging of heme from plasma

All locus annotations are based on the sentinel SNP (rs10754218) and 4 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
  • ZBTB41 zinc finger and BTB domain containing 41
eQTL genes
  • CFHR3 complement factor H-related 3

 

Results from other genome-wide association studies

Trait P Study Source
Factor XIII B subunit 2.1×10-13 23381943 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration 2.2×10-13 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD 4.4×10-9 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (geographic atrophy) 8×10-6 23455636 (PMID) GRASP2 nonQTL