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

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Locus annotations

Locus 276

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MASP3 trans Discovery rs259842 2:180,738,840 C/T 0.38 995 0.351 0.044 3.6×10-15 1.050 2.4×10-8 0.313

 

Regional association plots

Mannan-binding lectin serine protease 1 (MASP3)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Mannan-binding lectin serine protease 1 (MASP3)

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

Mannan-binding lectin serine protease 1 (MASP3)

Target (abbrv.) MASP3
Target (full name) Mannan-binding lectin serine protease 1
Somalogic ID (Sequence ID) SL011049 (3605-77_4)
Entrez Gene Symbol MASP1
UniProt ID P48740
UniProt Comment
  • Functions in the lectin pathway of complement, which performs a key role in innate immunity by recognizing pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered upon binding of mannan-binding lectin (MBL) and ficolins to sugar moieties which leads to activation of the associated proteases MASP1 and MASP2. Functions as an endopeptidase and may activate MASP2 or C2 or directly activate C3 the key component of complement reaction. Isoform 2 may have an inhibitory effect on the activation of the lectin pathway of complement or may cleave IGFBP5.
Wiki Pathways
  • Complement Activation, Classical Pathway
  • Complement and Coagulation Cascades
Reactome
  • Ficolins bind to repetitive carbohydrate structures on the target cell surface
  • Initial triggering of complement
  • Lectin pathway of complement activation
  • Scavenging by Class A Receptors
Pathway Studio
  • Lectin-Induced Complement Pathway

All locus annotations are based on the sentinel SNP (rs259842) and 1 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