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WCMC

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

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Locus annotations

Locus 145

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Cathepsin B cis Discovery rs3947 8:11,702,375 G/A 0.27 997 0.515 0.046 1.5×10-27 1.110 5.2×10-21 4.3×10-7
Cathepsin B cis Replication rs1692821 8:11,699,988 G/A 0.26 337 0.241 0.083 0.004 1.050 0.028 0.042

 

Regional association plots

 

Boxplots and histograms for top associations

Cathepsin B

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

Cathepsin B

Target (abbrv.) Cathepsin B
Target (full name) Cathepsin B
Somalogic ID (Sequence ID) SL000343 (3061-61_2)
Entrez Gene Symbol CTSB
UniProt ID P07858
UniProt Comment
  • Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis.
Reactome
  • Assembly of collagen fibrils and other multimeric structures
  • Collagen degradation
  • MHC class II antigen presentation
  • Trafficking and processing of endosomal TLR

All locus annotations are based on the sentinel SNP (rs3947) and 37 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
  • RP11-589N15.1
  • FDFT1 farnesyl-diphosphate farnesyltransferase 1
  • BLK BLK proto-oncogene, Src family tyrosine kinase
  • CTSB cathepsin B
  • FAM167A family with sequence similarity 167, member A
  • ZNF705C zinc finger protein 705C, pseudogene
  • DEFB130 defensin, beta 130
  • FAM66A family with sequence similarity 66, member A
  • DEFB130 defensin, beta 130
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of FDFT1 in blood 3.7×10-76 21829388 (PMID) GRASP2 eQTL
Gene expression of CTSB in blood 1.2×10-36 21829388 (PMID) GRASP2 eQTL
Gene expression of CTSB in peripheral blood monocytes 1.6×10-20 20502693 (PMID) GRASP2 eQTL
Gene expression of FDFT1 in peripheral blood monocytes 2.7×10-18 20502693 (PMID) GRASP2 eQTL
Gene expression of PCDHGB4 in peripheral blood monocytes 5.7×10-13 20502693 (PMID) GRASP2 eQTL
Gene expression of ANTXR1 in peripheral blood monocytes 2.6×10-12 20502693 (PMID) GRASP2 eQTL
Gene expression of CLDN23 in peripheral blood monocytes 3.4×10-9 20502693 (PMID) GRASP2 eQTL
FDFT1 gene expression in HIV-infected CD4+ T cells 6.9×10-9 20195503 (PMID) GRASP2 eQTL
Gene expression of NEIL2 in blood 1.1×10-8 21829388 (PMID) GRASP2 eQTL
Gene expression of CTSB in liver 1.4×10-8 18462017 (PMID) GRASP2 eQTL
Parkinson's disease 1×10-6 22451204 (PMID) GWAS Catalog via SNiPA
Differential exon level expression of FDFT1 [probe 3086244] in peripheral blood mononuclear cells 2.7×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of CTSB [probe 213275_x_at] in prefrontal cortex 2.1×10-5 20351726 (PMID) GRASP2 eQTL
Gene expression of CTSB (ENSG00000164733) in dendritic cells treated with Mycobacterium tuberculosis 2.5×10-5 22233810 (PMID) GRASP2 eQTL
Triglycerides 7.8×10-5 20686565 (PMID) GRASP2 nonQTL
Gene expression of CTSB [probe 200838_at] in prefrontal cortex 8.3×10-5 20351726 (PMID) GRASP2 eQTL
Total cholesterol 9×10-5 24097068 (PMID) Supplemental file
Gene expression of FDFT1 in CD4+ lymphocytes 1.4×10-4 20833654 (PMID) GRASP2 eQTL
Gene expression of FDFT1 [probeset 241954_at] in sputum 2.3×10-4 21949713 (PMID) GRASP2 eQTL
Gene expression of CTSB (ENSG00000164733) in dendritic cells 2.3×10-4 22233810 (PMID) GRASP2 eQTL
Gene expression of CTSB in CD4+ lymphocytes 4.4×10-4 20833654 (PMID) GRASP2 eQTL
Gene expression of FDFT1 [probe 3086206] in peripheral blood mononuclear cells 4.9×10-4 19222302 (PMID) GRASP2 eQTL