A genome-wide association study of circulating galectin-3

PLoS One. 2012;7(10):e47385. doi: 10.1371/journal.pone.0047385. Epub 2012 Oct 9.

Abstract

Galectin-3 is a lectin involved in fibrosis, inflammation and proliferation. Increased circulating levels of galectin-3 have been associated with various diseases, including cancer, immunological disorders, and cardiovascular disease. To enhance our knowledge on galectin-3 biology we performed the first genome-wide association study (GWAS) using the Illumina HumanCytoSNP-12 array imputed with the HapMap 2 CEU panel on plasma galectin-3 levels in 3,776 subjects and follow-up genotyping in an additional 3,516 subjects. We identified 2 genome wide significant loci associated with plasma galectin-3 levels. One locus harbours the LGALS3 gene (rs2274273; P = 2.35 × 10(-188)) and the other locus the ABO gene (rs644234; P = 3.65 × 10(-47)). The variance explained by the LGALS3 locus was 25.6% and by the ABO locus 3.8% and jointly they explained 29.2%. Rs2274273 lies in high linkage disequilibrium with two non-synonymous SNPs (rs4644; r(2) = 1.0, and rs4652; r(2) = 0.91) and wet lab follow-up genotyping revealed that both are strongly associated with galectin-3 levels (rs4644; P = 4.97 × 10(-465) and rs4652 P = 1.50 × 10(-421)) and were also associated with LGALS3 gene-expression. The origins of our associations should be further validated by means of functional experiments.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Galectin 3 / blood*
  • Galectin 3 / genetics
  • Genome-Wide Association Study / methods*
  • Genotype
  • Humans
  • Male
  • Polymorphism, Single Nucleotide / genetics

Substances

  • Galectin 3