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Table 4 Polymorphisms of genes involved in redox regulation that are implicated in sepsis and related conditions

From: Bench-to-bedside review: Sepsis - from the redox point of view

Gene Polymorphism Effect of polymorphism Population Genotypes Reference
p22-PHOX (NADPH oxidase subunit) C242T T allele is associated with higher plasma levels of nitrotyrosine (circulating biomarker of O2- and NO generation) Patients with acute renal failure (200) T-allele carrier state was associated with 2.1-fold higher odds for dialysis requirement or hospital death (P < 0.01) [123]
MNSOD Ala9Val Valine variant is associated with decreased intra-mitochondrial transport of MnSOD Healthy subjects (100) and patients with sepsis (40) A/A: 20% (frequency in control group) and 27.5% (in sepsis) V/V: 36% and 10% A/V: 44% and 62.5% [124]
eNOS G894T T allele is related to low levels of eNOS activity Patients with Escherichia coli bacteraemia (42) Carriage of the T allele was associated with low mean arterial pressure and high Sequential Organ Failure Assessment score [125]
MPO (gene promoter) G-129A A allele causes loss of transcriptional factor binding site and lower amount of MPO in cytoplasmatic granules Patients that underwent chemotherapy (136) or autologous stem cell transplantation (113) Chemotherapy: GG: 11% developed sepsis GA: 17% developed sepsis ASCT: GG: 7% developed sepsis GA: 25% developed sepsis [126]
NRF2 (gene promoter) C-617A A allele presents less transcriptional activity than C allele Humans with major trauma (164) Carriage of the A allele was related to a greater risk of acute lung injury (P = 0.021) [127]
HMOX1 (gene promoter) (GT) n Longer (GT)n repeats in the HMOX1 promoter are associated with higher plasma HO-1 levels ICU patients who developed (437) or did not develop (1014) acute respiratory distress syndrome Longer (GT)n repeats are associated with reduced acute respiratory distress syndrome risk [128]
TNF TNF1 and TNF2 allele TNF2 is associated with higher levels of inducible and constitutional TNF Critically ill infected patients (112) TNF2 frequency: General population: 5% Studied group: 12% (P < 0.01) Overall mortality: TNF1/TNF1: 48% TNF1/TNF2: 62% The frequency of septic shock: TNF1/TNF1: 34% TNF1/TNF2: 50% Mortality in septic shock patients: TNF1/TNF1: 62% TNF1/TNF2: 92% (P < 0.05) [129]
HIF-1α C85T T variant presents more transcriptional activity Patients with acute kidney injury (241) T-allele carriers had significantly higher odds for in-hospital death (P < 0.001) [130]
  1. eNOS, endothelial NOS; HIF, hypoxia inducible factor; HO-1, haem oxygenase (haem degrading enzyme); MnSOD, manganese superoxide dismutase; MPO, myeloperoxidase (HOCl generator).