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WCMC

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

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Locus annotations

Locus 257

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MBL cis Discovery rs2506 10:54,525,509 A/C 0.24 996 -0.404 0.049 5.5×10-16 -1.230 6.7×10-14 2×10-16
MBL cis Replication rs10082466 10:54,526,622 A/G 0.22 337 -0.359 0.090 7.8×10-5 -1.220 0.001 1.4×10-5

 

Regional association plots

 

Boxplots and histograms for top associations

Mannose-binding protein C (MBL)

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

Mannose-binding protein C (MBL)

Target (abbrv.) MBL
Target (full name) Mannose-binding protein C
Somalogic ID (Sequence ID) SL004516 (3000-66_1)
Entrez Gene Symbol MBL2
UniProt ID P11226
UniProt Comment
  • Calcium-dependent lectin involved in innate immune defense. Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells, facilitating their uptake by macrophages. May bind DNA.
Biomarker applications (based on IPA annotation)
  • diagnosis
Wiki Pathways
  • Regulation of toll-like receptor signaling pathway
Reactome
  • Initial triggering of complement
  • Lectin pathway of complement activation
Pathway Studio
  • Lectin-Induced Complement Pathway

All locus annotations are based on the sentinel SNP (rs2506) and 56 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
Potentially regulated genes
eQTL genes
  • PRKRIRP3 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 3

 

Results from other genome-wide association studies

Trait P Study Source
cg07745596 (chr10:54538658) 5.2×10-61 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg03716984 (chr10:54538481) 3.1×10-14 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
theophylline 3.4×10-5 24816252 (PMID) gwas.eu via SNiPA
Rheumatoid arthritis 2.5×10-4 21452313 (PMID) GRASP2 nonQTL
Hip bone mineral density (BMD) 3.7×10-4 18445777 (PMID) GRASP2 nonQTL