HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 111

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Factor H cis Discovery rs10737680 1:196,679,455 A/C 0.42 995 0.497 0.038 1.3×10-36 1.050 4.8×10-34 1.8×10-35
Factor H cis Replication rs2274700 1:196,682,947 A/G 0.49 337 -0.498 0.062 1.6×10-14 -1.060 2.7×10-14 1.5×10-14

 

Regional association plots

 

Boxplots and histograms for top associations

Complement factor H (Factor H)

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

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 (rs10737680) and 19 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
  • CFHR1 complement factor H-related 1
  • CFHR3 complement factor H-related 3
  • CFH complement factor H

 

Results from other genome-wide association studies

Trait P Study Source
Advanced age-related macular degeneration 0×100 23455636 (PMID) GRASP2 nonQTL
Age-related macular degeneration 0×100 23455636 (PMID) GWAS Catalog via SNiPA
Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD 1.5×10-176 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (geographic atrophy) 7.3×10-118 23455636 (PMID) GRASP2 nonQTL
Macular degeneration 8.9×10-92 pha002869 (dbGaP) dbGaP via SNiPA
Age-related macular degeneration (neovascular) 1.4×10-57 20385819 (PMID) GRASP2 nonQTL
Age-related macular degeneration (geographic atrophy) 1×10-39 20385819 (PMID) GRASP2 nonQTL
Serum myeloperoxidase levels 1.4×10-30 23620142 (PMID) GRASP2 nonQTL
Age-related macular degeneration (large drusen) 2.2×10-29 20385819 (PMID) GRASP2 nonQTL
Age-related macular degeneration (Stage 5 ARMD) 1.8×10-21 23577725 (PMID) GRASP2 nonQTL
Age-related macular degeneration in ever smokers 2.8×10-13 23577725 (PMID) GRASP2 nonQTL
Methylation levels at chr1:195010245-195010295 [hg18 coord, probe cg04614339] in Frontal cortex 4.9×10-12 20485568 (PMID) GRASP2 meQTL
Methylation levels at chr1:195010245-195010295 [hg18 coord, probe cg04614339] in Cerebellum 2.8×10-11 20485568 (PMID) GRASP2 meQTL
Factor XIII A subunit 6.9×10-10 23381943 (PMID) GRASP2 nonQTL
End-stage coagulation 1×10-9 23381943 (PMID) GWAS Catalog via SNiPA
Serum concentration of HWESASXX* 2.9×10-9 21886157 (PMID) GRASP2 metabQTL
Age-related macular degeneration in never smokers 6.2×10-9 23577725 (PMID) GRASP2 nonQTL
HWESASXX* 2.2×10-8 24816252 (PMID) gwas.eu via SNiPA
Factor XIII activity 3.9×10-8 23381943 (PMID) GRASP2 nonQTL