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WCMC

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

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Locus annotations

Locus 335

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CATZ trans Discovery rs10860794 12:102,217,720 C/A 0.31 997 -0.350 0.047 1.4×10-13 -1.090 1.5×10-12 2.5×10-11
CATZ trans Replication rs10860794 12:102,217,720 C/A 0.39 337 -0.111 0.065 0.09 -1.030 0.146 0.428
Cathepsin A trans Discovery rs10860794 12:102,217,720 C/A 0.31 997 -0.320 0.047 2.2×10-11 -1.110 4.9×10-11 7.9×10-9
Cathepsin A trans Replication rs10860794 12:102,217,720 C/A 0.39 337 -0.262 0.072 3×10-4 -1.110 4.6×10-4 0.003

 

Regional association plots

 

Boxplots and histograms for top associations

Cathepsin Z (CATZ)

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

Lysosomal protective protein (Cathepsin A)

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

Cathepsin Z (CATZ)

Target (abbrv.) CATZ
Target (full name) Cathepsin Z
Somalogic ID (Sequence ID) SL008380 (4971-1_1)
Entrez Gene Symbol CTSZ
UniProt ID Q9UBR2
UniProt Comment
  • Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity.
Reactome
  • Lysosome Vesicle Biogenesis
  • Metabolism of Angiotensinogen to Angiotensins

Lysosomal protective protein (Cathepsin A)

Target (abbrv.) Cathepsin A
Target (full name) Lysosomal protective protein
Somalogic ID (Sequence ID) SL009213 (3179-51_2)
Entrez Gene Symbol CTSA
UniProt ID P10619
UniProt Comment
  • Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins.
Reactome
  • Glycosphingolipid metabolism
  • MHC class II antigen presentation
  • Sialic acid metabolism

All locus annotations are based on the sentinel SNP (rs10860794) and 8 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
  • GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
  • RNA5SP369 RNA, 5S ribosomal pseudogene 369
Potentially regulated genes
  • CCDC53 coiled-coil domain containing 53
eQTL genes
  • CHPT1 choline phosphotransferase 1
  • DRAM1 DNA-damage regulated autophagy modulator 1

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of CHPT1 in blood 3×10-45 21829388 (PMID) GRASP2 eQTL
Gene expression of CHPT1 [probe 221675_s_at] in lymphoblastoid cell lines 1.7×10-9 17873877 (PMID) GRASP2 eQTL
Gene expression of CHPT1 [probe 230364_at] in lymphoblastoid cell lines 2.3×10-9 17873877 (PMID) GRASP2 eQTL
Gene expression of CHPT1 [probe ILMN_24076] in osteoblasts treated with BMP2 5.9×10-8 21283786 (PMID) GRASP2 eQTL
Gene expression of CHPT1 in peripheral blood monocytes 1.3×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of CHPT1 [probe ILMN_24076] in osteoblasts treated with dexamethasone 4×10-6 21283786 (PMID) GRASP2 eQTL
Bipolar disorder 1.8×10-4 18317468 (PMID) GRASP2 nonQTL
Gene expression of GNPTAB in CD4+ lymphocytes 4.2×10-4 20833654 (PMID) GRASP2 eQTL