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

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Locus annotations

Locus 194

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 rs5784945 10:54,544,242 G/- 0.22 992 0.490 0.052 4.2×10-20 1.310 5.2×10-20 8.3×10-18
MBL cis Replication rs12771797 10:54,561,593 G/A 0.29 337 0.352 0.080 1.6×10-5 1.270 2.5×10-5 5.2×10-5

 

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 (rs5784945).
However, the sentinel SNP is not contained in SNiPA's database (1000 Genomes Project, phase 3 version 5, European population). Thus, no information about linked genes or further functional annotation is available.

 

Results from other genome-wide association studies


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No associations available.