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

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Locus annotations

Locus 248

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CYTT cis Discovery rs7263120 20:23,690,021 C/T 0.11 995 -0.562 0.067 2.3×10-16 -1.300 2.1×10-17 1.3×10-13
CYTT cis Replication rs73088989 20:23,727,531 C/A 0.08 337 -0.467 0.112 3.8×10-5 -1.300 8×10-5 0.1
CYTN cis Discovery rs7263120 20:23,690,021 C/T 0.11 995 -0.494 0.068 9.6×10-13 -1.260 4.8×10-12 0.051
CYTN cis Replication rs73088989 20:23,727,531 C/A 0.08 337 -0.293 0.125 0.02 -1.100 0.142 0.801

 

Regional association plots

 

Boxplots and histograms for top associations

Cystatin-SA (CYTT)

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

Cystatin-SN (CYTN)

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

Cystatin-SA (CYTT)

Target (abbrv.) CYTT
Target (full name) Cystatin-SA
Somalogic ID (Sequence ID) SL008516 (4324-33_2)
Entrez Gene Symbol CST2
UniProt ID P09228
UniProt Comment
  • Thiol protease inhibitor.

Cystatin-SN (CYTN)

Target (abbrv.) CYTN
Target (full name) Cystatin-SN
Somalogic ID (Sequence ID) SL010456 (5459-33_3)
Entrez Gene Symbol CST1
UniProt ID P01037
UniProt Comment
  • Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences. Cystatin SN, with a pI of 7.5, is a much better inhibitor of papain and dipeptidyl peptidase I than is cystatin S, although both inhibit ficin equally well.

All locus annotations are based on the sentinel SNP (rs7263120) and 52 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
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Cystatin C in serum 6.8×10-20 20383146 (PMID) GRASP2 nonQTL
Serum cystatin c estimated glomerular filtration rate (eGFR) 7.2×10-15 19430482 (PMID) GRASP2 nonQTL
Gene expression of STS in peripheral blood monocytes 7.4×10-7 20502693 (PMID) GRASP2 eQTL