HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 326

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
complement factor H-related 5 cis Discovery rs35908703 1:196,692,940 T/C 0.06 993 -0.712 0.094 8.8×10-14 -1.240 7.7×10-18 2×10-10
Factor H cis Discovery rs35908703 1:196,692,940 T/C 0.06 993 -0.612 0.088 5.8×10-12 -1.060 3×10-11 1.8×10-11

 

Regional association plots

Complement factor H-related protein 5 (complement factor H-related 5)

Complement factor H (Factor H)

 

Boxplots and histograms for top associations

Complement factor H-related protein 5 (complement factor H-related 5)

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

Complement factor H (Factor H)

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

Complement factor H-related protein 5 (complement factor H-related 5)

Target (abbrv.) complement factor H-related 5
Target (full name) Complement factor H-related protein 5
Somalogic ID (Sequence ID) SL006830 (3666-17_4)
Entrez Gene Symbol CFHR5
UniProt ID Q9BXR6
UniProt Comment
  • Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH.

Complement factor H (Factor H)

Target (abbrv.) Factor H
Target (full name) Complement factor H
Somalogic ID (Sequence ID) SL000415 (4159-130_1)
Entrez Gene Symbol CFH
UniProt ID P08603
UniProt Comment
  • Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway.
Biomarker applications (based on IPA annotation)
  • unspecified application
Reactome
  • Regulation of Complement cascade
Pathway Studio
  • Alternative Complement Pathway

All locus annotations are based on the sentinel SNP (rs35908703) and 1 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
  • CFH complement factor H

 

Results from other genome-wide association studies

No associations available.