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

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Locus annotations

Locus 256

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
C4 cis Discovery rs805273 6:31,665,452 G/A 0.07 997 0.699 0.085 5.1×10-16 1.120 5×10-12 1.4×10-15
C4 cis Replication rs805273 6:31,665,452 G/A 0.17 337 0.534 0.098 1×10-7 1.140 2.8×10-6 6.4×10-8

 

Regional association plots

 

Boxplots and histograms for top associations

Complement C4 (C4)

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

Complement C4 (C4)

Target (abbrv.) C4
Target (full name) Complement C4
Somalogic ID (Sequence ID) SL000316 (4481-34_2)
Entrez Gene Symbol C4A, C4B
UniProt ID P0C0L4, P0C0L5
UniProt Comment
  • P0C0L4: Non-enzymatic component of C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.
  • P0C0L5: Non-enzymatic component of the C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.
Wiki Pathways
  • Complement Activation, Classical Pathway
  • SIDS Susceptibility Pathways
Reactome
  • Activation of C3 and C5
  • Initial triggering of complement
  • Regulation of Complement cascade

All locus annotations are based on the sentinel SNP (rs805273) and 3 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


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Genes hit or close-by
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Crohn's disease 7.1×10-7 Supplemental file
Primary biliary cirrhosis 5.3×10-5 23000144 (PMID) GRASP2 nonQTL