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WCMC

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

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Locus annotations

Locus 118

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
DAF cis Discovery rs12134133 1:207,457,845 G/A 0.28 995 -0.549 0.044 1.6×10-33 -1.090 2×10-30 4.3×10-28
DAF cis Replication rs28371597 1:207,496,896 C/A 0.20 337 -0.441 0.062 6.3×10-12 -1.100 7.1×10-12 9.7×10-11

 

Regional association plots

Complement decay-accelerating factor (DAF)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Complement decay-accelerating factor (DAF)

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

Complement decay-accelerating factor (DAF)

Target (abbrv.) DAF
Target (full name) Complement decay-accelerating factor
Somalogic ID (Sequence ID) SL004556 (5069-9_3)
Entrez Gene Symbol CD55
UniProt ID P08174
UniProt Comment
  • This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation. Interaction of daf with cell-associated C4b and C3b polypeptides interferes with their ability to catalyze the conversion of C2 and factor B to enzymatically active C2a and Bb and thereby prevents the formation of C4b2a and C3bBb, the amplification convertases of the complement cascade.
Wiki Pathways
  • Complement Activation, Classical Pathway
Reactome
  • Class B/2 (Secretin family receptors)
  • Regulation of Complement cascade

All locus annotations are based on the sentinel SNP (rs12134133) and 78 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
  • RP11-6J21.2
  • CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
Potentially regulated genes
  • IL20 interleukin 20
  • PIGR polymeric immunoglobulin receptor
  • C4BPB complement component 4 binding protein, beta
  • RP11-164O23.5
  • C4BPAP2 complement component 4 binding protein, alpha pseudogene 2
eQTL genes
  • CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
  • CR1 complement component (3b/4b) receptor 1 (Knops blood group)

 

Results from other genome-wide association studies

Trait P Study Source
cg00797651 (chr1:207494312) 5×10-205 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of [probe 2340220 centered at chr1:205600102] in blood 2.3×10-24 21829388 (PMID) GRASP2 eQTL
Serum ratio of (homocitrulline)/(urea) 2.7×10-6 21886157 (PMID) GRASP2 metabQTL
Myopia 5.1×10-6 23468642 (PMID) GRASP2 nonQTL
Serum ratio of (1-palmitoylglycerophosphoinositol*)/(cholate) 1.6×10-5 21886157 (PMID) GRASP2 metabQTL
threonine 2.2×10-5 24816252 (PMID) gwas.eu via SNiPA
4-acetaminophen sulfate 8.3×10-5 24816252 (PMID) gwas.eu via SNiPA