Severe sickle cell anemia is associated with increased plasma levels of TNF-R1 and VCAM-1

Am J Hematol. 2011 Feb;86(2):220-3. doi: 10.1002/ajh.21928.

Abstract

Sickle cell anemia (SCA, HBB glu6val) is characterized by multiple complications and a high degree of phenotypic variability: some subjects have only sporadic pain crises and few acute hospitalizations, while others experience multiple serious complications, high levels of morbidity, and accelerated mortality [1]. The tumor necrosis factor-α (TNF-α) signaling pathway plays important roles in inflammation and the immune response; variation in this pathway might be expected to modify the overall severity of SCA through the pathway's effects on the vascular endothelium [2,3]. We examined plasma biomarkers of TNF-α activity and endothelial cell activation for associations with SCA severity in 24 adults (12 mild, 12 severe). Two biomarkers, tumor necrosis factor-α receptor-1 (TNF-R1) and vascular cell adhesion molecule-1 (VCAM-1) were significantly higher in subjects with severe SCA. Along with these biomarker differences, we also examined data from a genome-wide association study (GWAS) using SCA severity as a disease phenotype, and found evidence of genetic association between disease severity and a single nucleotide polymorphism (SNP) in VCAM1, which codes for VCAM-1, and several SNPs in ARFGEF2, a gene involved in TNF-R1 release [4].

Publication types

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

MeSH terms

  • Adult
  • Anemia, Sickle Cell / blood*
  • Anemia, Sickle Cell / genetics
  • Anemia, Sickle Cell / physiopathology*
  • Biomarkers / blood
  • Female
  • Genome-Wide Association Study
  • Guanine Nucleotide Exchange Factors / genetics
  • Humans
  • Introns
  • Male
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Receptors, Tumor Necrosis Factor, Type I / blood*
  • Severity of Illness Index
  • United States
  • Vascular Cell Adhesion Molecule-1 / blood*
  • Vascular Cell Adhesion Molecule-1 / genetics

Substances

  • ARFGEF2 protein, human
  • Biomarkers
  • Guanine Nucleotide Exchange Factors
  • Receptors, Tumor Necrosis Factor, Type I
  • Vascular Cell Adhesion Molecule-1