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] |