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

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Locus annotations

Locus 267

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Haptoglobin, Mixed Type cis Discovery rs11645898 16:72,229,532 T/C 0.17 996 -0.468 0.058 1.5×10-15 -1.270 1×10-13 4.6×10-17
Haptoglobin, Mixed Type cis Replication rs4788605 16:72,154,682 C/A 0.14 337 0.024 0.101 0.809 1.030 0.751 0.744

 

Regional association plots

Haptoglobin (Haptoglobin, Mixed Type)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Haptoglobin (Haptoglobin, Mixed Type)

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

Haptoglobin (Haptoglobin, Mixed Type)

Target (abbrv.) Haptoglobin, Mixed Type
Target (full name) Haptoglobin
Somalogic ID (Sequence ID) SL000437 (3054-3_2)
Entrez Gene Symbol HP
UniProt ID P00738
UniProt Comment
  • As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an Antimicrobial; Antioxidant, has antibacterial activity and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidely cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation pathway.
Biomarker applications (based on IPA annotation)
  • diagnosis
  • efficacy
  • unspecified application
Reactome
  • Scavenging of heme from plasma

All locus annotations are based on the sentinel SNP (rs11645898) and 36 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
  • DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38
  • PMFBP1 polyamine modulated factor 1 binding protein 1
Potentially regulated genes
  • PMFBP1 polyamine modulated factor 1 binding protein 1
eQTL genes
  • HPR haptoglobin-related protein
  • DHODH dihydroorotate dehydrogenase (quinone)
  • PMFBP1 polyamine modulated factor 1 binding protein 1
  • DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38
  • HP haptoglobin
  • TXNL4B thioredoxin-like 4B

 

Results from other genome-wide association studies

Trait P Study Source
cg04170065 (chr16:72153228) 2.2×10-135 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of HPR in blood 9.8×10-23 21829388 (PMID) GRASP2 eQTL
Gene expression of HP in peripheral blood monocytes 1.4×10-22 20502693 (PMID) GRASP2 eQTL
Serum Gp/Tot-C 3.6×10-13 22286219 (PMID) GRASP2 metabQTL
Gene expression of DHX38 in blood 1.5×10-10 21829388 (PMID) GRASP2 eQTL
Gene expression of PMFBP1 in peripheral blood monocytes 9.8×10-10 20502693 (PMID) GRASP2 eQTL
Gene expression of DHX38 in peripheral blood monocytes 2.4×10-8 20502693 (PMID) GRASP2 eQTL
Gene expression of PMFBP1 in normal prepouch ileum 3×10-7 23474282 (PMID) GRASP2 eQTL
SM (OH) C24:1 / PC ae C44:3 4.8×10-7 20037589 (PMID) GRASP2 metabQTL
Circulating haptoglobin levels 6×10-5 22403646 (PMID) GRASP2 nonQTL
Gene expression of PMFBP1 (probeID ILMN_1713867) in cerebellum in Alzheimer's disease cases and controls 8.8×10-5 22685416 (PMID) GRASP2 eQTL