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

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Locus annotations

Locus 72

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 rs10494745 1:196,887,457 G/A 0.11 996 -1.025 0.063 1.8×10-52 -1.920 2.7×10-67 2×10-40
Hemopexin trans Replication rs10494745 1:196,887,457 G/A 0.07 337 -0.916 0.132 2.4×10-11 -1.770 2.9×10-12 3×10-10

 

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 (rs10494745) and 2 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


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Genes hit or close-by
  • CFHR4 complement factor H-related 4
  • CFHR2
  • ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
  • ZBTB41 zinc finger and BTB domain containing 41

 

Results from other genome-wide association studies

Trait P Study Source
Advanced age-related macular degeneration 5.4×10-70 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD 1.3×10-52 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (geographic atrophy) 7.3×10-34 23455636 (PMID) GRASP2 nonQTL
Age-related macular degeneration 3.3×10-9 23326517 (PMID) GRASP2 nonQTL
Serum concentration of 1-stearoylglycerophosphoethanolamine 5.3×10-5 21886157 (PMID) GRASP2 metabQTL
Severe diabetic retinopathy in type 1 diabetes (without nephropathy) 7.8×10-5 21441570 (PMID) GRASP2 nonQTL

CFHR4 may regulate HPX protein levels.

This locus is discussed in the main paper.

The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.