HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 177

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Properdin trans Discovery rs7529589 1:196,658,279 C/T 0.38 993 -0.425 0.043 2.4×10-22 -1.070 4.7×10-21 3.5×10-22
Properdin trans Replication rs1061147 1:196,654,324 C/A 0.33 337 -0.277 0.076 3×10-4 -1.080 0.004 1.9×10-4

 

Regional association plots

 

Boxplots and histograms for top associations

Properdin

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

Properdin

Target (abbrv.) Properdin
Target (full name) Properdin
Somalogic ID (Sequence ID) SL003192 (2960-66_2)
Entrez Gene Symbol CFP
UniProt ID P27918
UniProt Comment
  • A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes.
Reactome
  • Activation of C3 and C5
  • Alternative complement activation
  • O-glycosylation of TSR domain-containing proteins
  • Regulation of Complement cascade
Pathway Studio
  • Alternative Complement Pathway

All locus annotations are based on the sentinel SNP (rs7529589) and 77 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
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Advanced age-related macular degeneration 3.8×10-288 23455636 (PMID) GRASP2 nonQTL
Age-related macular degeneration 1×10-261 21665990 (PMID) GWAS Catalog via SNiPA
Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD 7.2×10-187 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (geographic atrophy) 1.3×10-128 23455636 (PMID) GRASP2 nonQTL
Age-related macular degeneration (CNV) 1×10-108 22705344 (PMID) GWAS Catalog via SNiPA
Macular degeneration 2.1×10-88 pha002869 (dbGaP) dbGaP via SNiPA
Age-related macular degeneration (GA) 5×10-67 22705344 (PMID) GWAS Catalog via SNiPA
Serum myeloperoxidase levels 2.7×10-24 23620142 (PMID) GRASP2 nonQTL
Gene expression of CFHR1 in liver 3.6×10-24 18462017 (PMID) GRASP2 eQTL
Age-related macular degeneration (Stage 5 ARMD) 8.7×10-24 23577725 (PMID) GRASP2 nonQTL
Age-related macular degeneration (extreme sampling) 9×10-24 23577725 (PMID) GWAS Catalog via SNiPA
Age-related macular degeneration in ever smokers 7.8×10-16 23577725 (PMID) GRASP2 nonQTL
Age-related macular degeneration in never smokers 1.7×10-11 23577725 (PMID) GRASP2 nonQTL
Exudative age-related macular degeneration 2.7×10-10 21909106 (PMID) GRASP2 nonQTL
Gene expression of CFH in liver 7.2×10-10 18462017 (PMID) GRASP2 eQTL
Gene expression of CFHR5 in liver 1.2×10-7 18462017 (PMID) GRASP2 eQTL
Gene expression of [probe 5310138 centered at chr14:105429053] in blood 2.2×10-6 21829388 (PMID) GRASP2 eQTL
HWESASXX* 2.6×10-6 24816252 (PMID) gwas.eu via SNiPA
Serum concentration of HWESASXX* 3.6×10-6 21886157 (PMID) GRASP2 metabQTL
Waist circumference in Type 2 diabetes 2.8×10-5 17463246 (PMID) GRASP2 nonQTL
Serum ratio of (1-methylurate)/(arabinose) 3.1×10-5 21886157 (PMID) GRASP2 metabQTL
Serum ratio of (margarate (17:0))/(palmitate (16:0)) 8.2×10-5 21886157 (PMID) GRASP2 metabQTL
Total cholesterol 2.5×10-4 20066028 (PMID) GRASP2 nonQTL