Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci

PLoS Genet. 2011 Apr;7(4):e1001374. doi: 10.1371/journal.pgen.1001374. Epub 2011 Apr 21.

Abstract

Soluble ICAM-1 (sICAM-1) is an endothelium-derived inflammatory marker that has been associated with diverse conditions such as myocardial infarction, diabetes, stroke, and malaria. Despite evidence for a heritable component to sICAM-1 levels, few genetic loci have been identified so far. To comprehensively address this issue, we performed a genome-wide association analysis of sICAM-1 concentration in 22,435 apparently healthy women from the Women's Genome Health Study. While our results confirm the previously reported associations at the ABO and ICAM1 loci, four novel associations were identified in the vicinity of NFKBIK (rs3136642, P = 5.4 × 10(-9)), PNPLA3 (rs738409, P = 5.8 × 10(-9)), RELA (rs1049728, P = 2.7 × 10(-16)), and SH2B3 (rs3184504, P = 2.9 × 10(-17)). Two loci, NFKBIB and RELA, are involved in NFKB signaling pathway; PNPLA3 is known for its association with fatty liver disease; and SH3B2 has been associated with a multitude of traits and disease including myocardial infarction. These associations provide insights into the genetic regulation of sICAM-1 levels and implicate these loci in the regulation of endothelial function.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • ABO Blood-Group System / genetics
  • Adaptor Proteins, Signal Transducing
  • Cohort Studies
  • Female
  • Gene Frequency
  • Genetic Loci
  • Genome, Human
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • I-kappa B Kinase / genetics*
  • Intercellular Adhesion Molecule-1 / blood
  • Intercellular Adhesion Molecule-1 / genetics*
  • Intracellular Signaling Peptides and Proteins
  • Lipase / genetics*
  • Membrane Proteins / genetics*
  • Models, Genetic
  • Multifactorial Inheritance
  • Polymorphism, Single Nucleotide
  • Proteins / genetics*
  • Transcription Factor RelA / genetics*

Substances

  • ABO Blood-Group System
  • Adaptor Proteins, Signal Transducing
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Proteins
  • RELA protein, human
  • SH2B3 protein, human
  • Transcription Factor RelA
  • Intercellular Adhesion Molecule-1
  • I-kappa B Kinase
  • IKBKB protein, human
  • Lipase
  • adiponutrin, human