HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 241

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
FCN1 cis Discovery rs10858300 9:137,842,500 C/T 0.25 994 0.409 0.048 6.2×10-17 1.130 1.7×10-11 0.063
FCN1 cis Replication rs60008355 9:137,843,955 A/G 0.27 337 0.366 0.081 9.3×10-6 1.120 0.011 0.399

 

Regional association plots

 

Boxplots and histograms for top associations

Ficolin-1 (FCN1)

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

Ficolin-1 (FCN1)

Target (abbrv.) FCN1
Target (full name) Ficolin-1
Somalogic ID (Sequence ID) SL010462 (3613-62_5)
Entrez Gene Symbol FCN1
UniProt ID O00602
UniProt Comment
  • Extracellular lectin functioning as a pattern-recognition receptor in innate immunity. Binds the sugar moieties of pathogen-associated molecular patterns (PAMPs) displayed on microbes and activates the lectin pathway of the complement system. May also activate monocytes through a G protein-coupled receptor, FFAR2, inducing the secretion of interleukin-8/IL-8 (PubMed:21037097). Binds preferentially to 9-O-acetylated 2-6-linked sialic acid derivatives and to various glycans containing sialic acid engaged in a 2-3 linkage.
Reactome
  • Ficolins bind to repetitive carbohydrate structures on the target cell surface
  • Initial triggering of complement
  • Lectin pathway of complement activation

All locus annotations are based on the sentinel SNP (rs10858300) and 22 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

eQTL genes
  • OLFM1 olfactomedin 1
  • RP11-447M12.2
  • FCN1 ficolin (collagen/fibrinogen domain containing) 1
  • NELFB negative elongation factor complex member B

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of OLFM1 in peripheral blood monocytes 2.3×10-70 20502693 (PMID) GRASP2 eQTL
cg06244417 (chr9:137809604) 1.2×10-62 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of OLFM1 in blood 5.7×10-46 21829388 (PMID) GRASP2 eQTL
cg17357062 (chr9:137810324) 3.4×10-39 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
OLFM1 gene expression 3.5×10-13 21798870 (PMID) GRASP2 eQTL
cg13639452 (chr9:137623806) 1.8×10-12 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of OLFM1 (probeID ILMN_1714709) in whole blood 6.3×10-10 22692066 (PMID) GRASP2 eQTL
cg13709646 (chr9:137813921) 2.1×10-9 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg21212713 (chr9:137709405) 2.6×10-9 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Coronary artery disease (CAD) 1.6×10-8 23364394 (PMID) GRASP2 nonQTL
Gene expression of FCN1 in blood 1.9×10-6 21829388 (PMID) GRASP2 eQTL
cg05328939 (chr9:137731049) 6.4×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of OLFM1 in blood cells in Celiac disease 7×10-6 19128478 (PMID) GRASP2 eQTL
cg13749670 (chr9:137611670) 9.5×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg00155846 (chr9:138011542) 2.5×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg14377171 (chr9:138022155) 2.7×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
FCN1 gene expression 1×10-4 21798870 (PMID) GRASP2 eQTL