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

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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