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

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Locus annotations

Locus 319

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 rs8044476 16:72,800,567 A/G 0.14 997 -0.480 0.063 7.7×10-14 -1.270 2.5×10-12 1.1×10-13
Haptoglobin, Mixed Type cis Replication rs12598219 16:72,777,225 A/G 0.14 337 -0.391 0.107 2.9×10-4 -1.280 0.016 3.2×10-4

 

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 (rs8044476) 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


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Genes hit or close-by
Potentially regulated genes
  • C16orf47 chromosome 16 open reading frame 47

 

Results from other genome-wide association studies

Trait P Study Source
Triglycerides 5.3×10-9 24097068 (PMID) Supplemental file
LDL cholesterol 3.5×10-8 24097068 (PMID) Supplemental file
Gene expression of AL133108 in liver 3.5×10-5 18462017 (PMID) GRASP2 eQTL
Sporadic Creutzfeldt-Jakob disease 7.2×10-5 22210626 (PMID) GRASP2 nonQTL
Height 1.8×10-4 25282103 (PMID) Supplemental file
Total cholesterol 2.8×10-4 20686565 (PMID) GRASP2 nonQTL