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

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Locus annotations

Locus 412

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
C1-Esterase Inhibitor cis Discovery rs12788387 11:57,893,347 A/C 0.33 996 -0.304 0.044 1.5×10-11 -1.070 1.3×10-11 2.3×10-11
C1-Esterase Inhibitor cis Replication rs12804093 11:57,734,088 A/G 0.29 337 -0.270 0.078 0.001 -1.030 0.446 0.139

 

Regional association plots

Plasma protease C1 inhibitor (C1-Esterase Inhibitor)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Plasma protease C1 inhibitor (C1-Esterase Inhibitor)

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

Plasma protease C1 inhibitor (C1-Esterase Inhibitor)

Target (abbrv.) C1-Esterase Inhibitor
Target (full name) Plasma protease C1 inhibitor
Somalogic ID (Sequence ID) SL000308 (4479-14_2)
Entrez Gene Symbol SERPING1
UniProt ID P05155
UniProt Comment
  • Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein.
Wiki Pathways
  • Complement and Coagulation Cascades
Reactome
  • Intrinsic Pathway of Fibrin Clot Formation
  • Platelet degranulation

All locus annotations are based on the sentinel SNP (rs12788387) and 45 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
  • OR9L1P olfactory receptor, family 9, subfamily L, member 1 pseudogene
  • OR9Q1 olfactory receptor, family 9, subfamily Q, member 1
  • OR9I3P olfactory receptor, family 9, subfamily I, member 3 pseudogene
  • OR9I1 olfactory receptor, family 9, subfamily I, member 1
  • OR9I2P olfactory receptor, family 9, subfamily I, member 2 pseudogene
Potentially regulated genes
  • OR5B21 olfactory receptor, family 5, subfamily B, member 21
  • LPXN leupaxin
  • ZDHHC5 zinc finger, DHHC-type containing 5
eQTL genes
  • MED19 mediator complex subunit 19
  • RN7SL605P RNA, 7SL, cytoplasmic 605, pseudogene
  • TIMM10 translocase of inner mitochondrial membrane 10 homolog (yeast)

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of TIMM10 in peripheral blood monocytes 7.1×10-16 20502693 (PMID) GRASP2 eQTL
Gene expression of YPEL4 in peripheral blood monocytes 8.5×10-10 20502693 (PMID) GRASP2 eQTL
Gene expression of GEM in peripheral blood monocytes 3.6×10-6 20502693 (PMID) GRASP2 eQTL