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WCMC

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

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Locus annotations

Locus 161

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Catalase cis Discovery rs2284367 11:34,484,542 T/C 0.22 997 -0.511 0.048 4.1×10-25 -1.140 5.3×10-23 7×10-16
Catalase cis Replication rs769218 11:34,470,679 G/A 0.28 337 -0.184 0.081 0.023 -1.070 0.017 0.018

 

Regional association plots

 

Boxplots and histograms for top associations

Catalase

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

Catalase

Target (abbrv.) Catalase
Target (full name) Catalase
Somalogic ID (Sequence ID) SL000342 (3488-64_2)
Entrez Gene Symbol CAT
UniProt ID P04040
UniProt Comment
  • Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide. Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells.
Targeted by drugs (based on IPA annotation)
  • fomepizole
Biomarker applications (based on IPA annotation)
  • diagnosis
Wiki Pathways
  • DNA damage response (only ATM dependent)
  • Folate Metabolism
  • Oxidative Stress
  • Selenium Pathway
  • Tryptophan metabolism
Pathway Interaction Database
  • FoxO family signaling
Reactome
  • Detoxification of Reactive Oxygen Species
  • Purine catabolism
Pathway Studio
  • Peroxisome Protein Import and Peroxisome Division

All locus annotations are based on the sentinel SNP (rs2284367) and 19 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
Potentially regulated genes
  • NAT10 N-acetyltransferase 10 (GCN5-related)
  • CAPRIN1 cell cycle associated protein 1
eQTL genes
  • CAT catalase
  • ABTB2 ankyrin repeat and BTB (POZ) domain containing 2

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of CAT in blood 3.8×10-69 21829388 (PMID) GRASP2 eQTL
Gene expression of CAT in peripheral blood monocytes 2.9×10-28 20502693 (PMID) GRASP2 eQTL
Gene expression of CAT [probe 201432_at] in lymphoblastoid cell lines 3.8×10-13 17873877 (PMID) GRASP2 eQTL
Gene expression of CAT [probe 211922_s_at] in lymphoblastoid cell lines 1.2×10-9 17873877 (PMID) GRASP2 eQTL
Gene expression of CAT (probeID ILMN_1651705) in breast tumors 7.3×10-9 22522925 (PMID) GRASP2 eQTL
Gene expression of KIAA1892 in CEU lymphoblastoid cell lines 1.3×10-8 17873874 (PMID) GRASP2 eQTL
Gene expression of CAT in CEU lymphoblastoid cell lines 3.5×10-7 17873874 (PMID) GRASP2 eQTL
Gene expression of CAT in normal prepouch ileum 4.6×10-7 23474282 (PMID) GRASP2 eQTL
Gene expression of CAT in blood cells in Celiac disease 6.2×10-5 19128478 (PMID) GRASP2 eQTL