A genetic variant of hypoxia-inducible factor-1alpha is associated with adverse outcomes in acute kidney injury

Kidney Int. 2009 Jun;75(12):1322-1329. doi: 10.1038/ki.2009.68. Epub 2009 Mar 11.

Abstract

Hypoxia-inducible factor-1alpha (HIF-1alpha) is a transcription factor that mediates many cellular responses to tissue hypoxia, a common feature of acute kidney injury (AKI). Here we studied 241 patients with AKI and determined the relationship to adverse outcome of a non-synonymous polymorphism in the coding region of the HIF-1alpha gene where a C to T substitution occurs at position +85 in exon 12, a change known to enhance transactivation. The baseline characteristics of the patients were not different among genotype groups except for a significantly higher prevalence of shock and number of failed organs in T-allele carriers. A significant genotype-phenotype association was found for plasma levels of vascular endothelial growth factor-A but not angiopoietin-2, two downstream targets of HIF-1alpha. Compared to the CC genotype, T-allele carriers had significantly higher adjusted odds for dialysis requirement or in-hospital death; assisted mechanical ventilation or dialysis requirement; and the composite of assisted mechanical ventilation, dialysis requirement or in-hospital death. The trend for higher plasma angiopoietin-2 levels was associated with significantly higher adjusted odds for in-hospital death; dialysis requirement or in-hospital death; and the composite outcome of assisted mechanical ventilation, dialysis, or in-hospital death. Despite the limited cohort size, our study found this particular HIF-1alpha genetic variant to be associated with disease severity and adverse outcomes in AKI. Larger studies are needed to confirm these relationships.

Publication types

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

MeSH terms

  • Acute Kidney Injury / blood
  • Acute Kidney Injury / genetics*
  • Acute Kidney Injury / mortality
  • Acute Kidney Injury / therapy
  • Aged
  • Aged, 80 and over
  • Alleles
  • Angiotensin II / blood
  • Base Sequence
  • Cohort Studies
  • DNA Primers / genetics
  • Female
  • Genetic Variation
  • Genotype
  • Humans
  • Hypoxia-Inducible Factor 1, alpha Subunit / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Prognosis
  • Prospective Studies
  • Renal Dialysis
  • Respiration, Artificial
  • Vascular Endothelial Growth Factor A / blood

Substances

  • DNA Primers
  • HIF1A protein, human
  • Hypoxia-Inducible Factor 1, alpha Subunit
  • VEGFA protein, human
  • Vascular Endothelial Growth Factor A
  • Angiotensin II