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WCMC

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

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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


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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