CYBA and GSTP1 variants associate with oxidative stress under hypobaric hypoxia as observed in high-altitude pulmonary oedema

Clin Sci (Lond). 2012 Mar;122(6):299-309. doi: 10.1042/CS20110205.

Abstract

HAPE (high-altitude pulmonary oedema) is characterized by pulmonary hypertension, vasoconstriction and an imbalance in oxygen-sensing redox switches. Excess ROS (reactive oxygen species) contribute to endothelial damage under hypobaric hypoxia, hence the oxidative-stress-related genes CYBA (cytochrome b-245 α polypeptide) and GSTP1 (glutathione transferase Pi 1) are potential candidate genes for HAPE. In the present study, we investigated the polymorphisms -930A/G and H72Y (C/T) of CYBA and I105V (A/G) and A114V (C/T) of GSTP1, individually and in combination, in 150 HAPE-p (HAPE patients), 180 HAPE-r (HAPE-resistant lowland natives) and 180 HLs (healthy highland natives). 8-Iso-PGF2α (8-iso-prostaglandin F2α) levels were determined in plasma and were correlated with individual alleles, genotype, haplotype and gene-gene interactions. The relative expression of CYBA and GSTP1 were determined in peripheral blood leucocytes. The genotype distribution of -930A/G, H72Y (C/T) and I105V (A/G) differed significantly in HAPE-p compared with HAPE-r and HLs (P≤0.01). The haplotypes G-C of -930A/G and H72Y (C/T) in CYBA and G-C and G-T of I105V (A/G) and A114V (C/T) in GSTP1 were over-represented in HAPE-p; in contrast, haplotypes A-T of -930A/G and H72Y (C/T) in CYBA and A-C of I105V (A/G) and A114V (C/T) in GSTP1 were over-represented in HAPE-r and HLs. 8-Iso-PGF2α levels were significantly higher in HAPE-p and in HLs than in HAPE-r (P=2.2×10(-16) and 1.2×10(-14) respectively) and the expression of CYBA and GSTP1 varied differentially (P<0.05). Regression analysis showed that the risk alleles G, C, G and T of -930A/G, H72Y (C/T), I105V (A/G) and A114V (C/T) were associated with increased 8-iso-PGF2α levels (P<0.05). Interaction between the two genes revealed over-representation of most of the risk-allele-associated genotype combinations in HAPE-p and protective-allele-associated genotype combinations in HLs. In conclusion, the risk alleles of CYBA and GSTP1, their haplotypes and gene-gene interactions are associated with imbalanced oxidative stress and, thereby, with high-altitude adaptation and mal-adaptation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Altitude Sickness / genetics*
  • Altitude Sickness / metabolism
  • Dinoprost / analogs & derivatives
  • Dinoprost / blood
  • Epistasis, Genetic
  • Gene Frequency
  • Genotype
  • Glutathione S-Transferase pi / genetics*
  • Haplotypes
  • Humans
  • Hypertension, Pulmonary / genetics*
  • Hypertension, Pulmonary / metabolism
  • Hypoxia / metabolism*
  • Linkage Disequilibrium
  • NADPH Oxidases / genetics*
  • Oxidative Stress*
  • Polymorphism, Single Nucleotide*
  • Regression Analysis

Substances

  • 8-epi-prostaglandin F2alpha
  • Dinoprost
  • NADPH Oxidases
  • CYBA protein, human
  • GSTP1 protein, human
  • Glutathione S-Transferase pi

Supplementary concepts

  • Pulmonary edema of mountaineers