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WCMC

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

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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


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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