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WCMC

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

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Locus annotations

Locus 34

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 rs10824796 10:54,534,613 G/A 0.22 995 -0.949 0.043 1×10-89 -1.750 2.5×10-104 1.5×10-71
MBL cis Replication rs2384046 10:54,535,840 C/A 0.23 337 -0.796 0.074 2×10-23 -1.770 4.7×10-27 4.9×10-17

 

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 (rs10824796) and 5 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
  • MBL2 mannose-binding lectin (protein C) 2, soluble
Potentially regulated genes
  • MBL2
  • DKK1 dickkopf WNT signaling pathway inhibitor 1
  • MBL2 mannose-binding lectin (protein C) 2, soluble
eQTL genes
  • MBL2 mannose-binding lectin (protein C) 2, soluble

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of MBL2 in liver 2×10-16 21637794 (PMID) GRASP2 eQTL
Gene expression of GGTLA1 in liver 1.2×10-7 18462017 (PMID) GRASP2 eQTL
Gene expression of CHUK in liver 1.4×10-6 18462017 (PMID) GRASP2 eQTL
Gene expression of C1orf103 in liver 1.5×10-6 18462017 (PMID) GRASP2 eQTL
Gene expression of CRABP2 in peripheral blood monocytes 1.5×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of SSB in liver 2.5×10-6 18462017 (PMID) GRASP2 eQTL
Gene expression of RXRB in liver 2.9×10-6 18462017 (PMID) GRASP2 eQTL
1-arachidonoylglycerophosphocholine* 7.6×10-5 24816252 (PMID) gwas.eu via SNiPA