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WCMC

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

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Locus annotations

Locus 254

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Galectin-3 cis Discovery rs35070799 14:55,818,403 T/C 0.08 992 -0.630 0.076 4.5×10-16 -1.120 6.2×10-14 3.5×10-13
Galectin-3 cis Replication rs7160411 14:55,679,032 G/A 0.16 337 -0.137 0.090 0.128 -1.040 0.093 0.154

 

Regional association plots

 

Boxplots and histograms for top associations

Galectin-3

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

Galectin-3

Target (abbrv.) Galectin-3
Target (full name) Galectin-3
Somalogic ID (Sequence ID) SL003744 (3066-12_1)
Entrez Gene Symbol LGALS3
UniProt ID P17931
UniProt Comment
  • Galactose-specific lectin which binds IgE. May mediate with the alpha-3, beta-1 integrin the stimulation by CSPG4 of endothelial cells migration. Together with DMBT1, required for terminal differentiation of columnar epithelial cells during early embryogenesis (By similarity). In the nucleus: acts as a pre-mRNA splicing factor. Involved in acute inflammatory responses including neutrophil activation and adhesion, chemoattraction of monocytes macrophages, opsonization of apoptotic neutrophils, and activation of mast cells.
Biomarker applications (based on IPA annotation)
  • diagnosis
  • unspecified application
Pathway Interaction Database
  • Hedgehog signaling events mediated by Gli proteins
  • Regulation of Ras family activation
Reactome
  • Advanced glycosylation endproduct receptor signaling

All locus annotations are based on the sentinel SNP (rs35070799) and 197 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
  • LGALS3 lectin, galactoside-binding, soluble, 3
  • RPL13AP3 ribosomal protein L13a pseudogene 3
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Circulating galectin-3 levels 6.9×10-47 23056639 (PMID) GRASP2 nonQTL
cg12192145 (chr14:55849504) 4×10-27 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg14053764 (chr14:55761456) 1.5×10-26 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of KTN1 in peripheral blood monocytes 1.3×10-12 20502693 (PMID) GRASP2 eQTL
cg14897683 (chr14:55807160) 1.5×10-8 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Height 4.2×10-6 25282103 (PMID) Supplemental file
Gene expression of C14orf32 [probe ILMN_24999] in osteoblasts treated with PGE2 1.5×10-4 21283786 (PMID) GRASP2 eQTL
Extraversion 2.7×10-4 26362575 (PMID) Supplemental file