Polymorphism, genetic Archives - Critical Care Science (CCS)
Abstract
Rev Bras Ter Intensiva. 2009;21(4):343-348
DOI 10.1590/S0103-507X2009000400002
OBJECTIVE: Traumatic brain injury is the major cause of death among individuals between 1-45 years-old. The outcome of traumatic brain injury may be related to brain susceptibility to the injury and genetic factors. Genes that may affect traumatic brain injury outcome are being investigated, however there is still few data concerning the association between genetic polymorphisms and traumatic brain injury outcome. The interleukin-1 beta gene (IL-1B) is one of the most studied genes, because levels of this cytokine are raised after traumatic brain injury and this can affect worsen the prognosis. The aim of this study was to test whether the -31C/T polymorphism, located at the promoter region of the IL-1B gene, is associated with primary short-term outcome (death or intensive care unit discharge) in severe traumatic brain injury patients. METHODS: Were studied 69 patients admitted with severe traumatic brain injury in three hospitals of the metropolitan region of Porto Alegre. The polymorphism was analyzed by polymerase chain reaction, followed by restriction digestion. RESULTS: Severe traumatic brain injury was associated with a 45% mortality rate. No significant differences were observed in the allele and genotype frequencies between patients stratified by traumatic brain injury outcome. CONCLUSION: Our findings suggest that -31C/T IL-1B gene polymorphism have no significant impact on the outcome of patients after acute severe traumatic brain injury.
Abstract
Rev Bras Ter Intensiva. 2009;21(4):343-348
DOI 10.1590/S0103-507X2009000400002
OBJECTIVE: Traumatic brain injury is the major cause of death among individuals between 1-45 years-old. The outcome of traumatic brain injury may be related to brain susceptibility to the injury and genetic factors. Genes that may affect traumatic brain injury outcome are being investigated, however there is still few data concerning the association between genetic polymorphisms and traumatic brain injury outcome. The interleukin-1 beta gene (IL-1B) is one of the most studied genes, because levels of this cytokine are raised after traumatic brain injury and this can affect worsen the prognosis. The aim of this study was to test whether the -31C/T polymorphism, located at the promoter region of the IL-1B gene, is associated with primary short-term outcome (death or intensive care unit discharge) in severe traumatic brain injury patients. METHODS: Were studied 69 patients admitted with severe traumatic brain injury in three hospitals of the metropolitan region of Porto Alegre. The polymorphism was analyzed by polymerase chain reaction, followed by restriction digestion. RESULTS: Severe traumatic brain injury was associated with a 45% mortality rate. No significant differences were observed in the allele and genotype frequencies between patients stratified by traumatic brain injury outcome. CONCLUSION: Our findings suggest that -31C/T IL-1B gene polymorphism have no significant impact on the outcome of patients after acute severe traumatic brain injury.
Abstract
Rev Bras Ter Intensiva. 2009;21(4):416-424
DOI 10.1590/S0103-507X2009000400012
Acute lung injury and its most severe presentation, acute respiratory distress syndrome, are a common denominator for several diseases which can lead to exaggerated lung inflammation. In the last years this variability has been ascribed, at least partially, to genetic issues. This study aims to review the role of the main genes involved in acute lung injury and acute respiratory distress syndrome susceptibility, morbidity and mortality. By search on PubMed and LiLACS databases, using the key words acute lung injury, acute respiratory distress syndrome and adult acute respiratory distress syndrome in combination with genetic polymorphisms, 69 papers were selected, from which 38 were included in this review. Were also considered relevant articles extracted from the reference lists in the articles selected from the databases. Genetic polymorphisms are gene variations in at least 1% population. These gene variations may influence the inflammatory response mediators' expression, directly affecting the susceptibility to acute lung injury, the intensity of lung parenchyma inflammation, the development clinical course and outcome. Association studies reproducible in large populations will definitely allow genomics to be included into the diagnostic and therapeutic armamentarium for acute lung injury/acute respiratory distress syndrome patients.
Abstract
Rev Bras Ter Intensiva. 2009;21(4):416-424
DOI 10.1590/S0103-507X2009000400012
Acute lung injury and its most severe presentation, acute respiratory distress syndrome, are a common denominator for several diseases which can lead to exaggerated lung inflammation. In the last years this variability has been ascribed, at least partially, to genetic issues. This study aims to review the role of the main genes involved in acute lung injury and acute respiratory distress syndrome susceptibility, morbidity and mortality. By search on PubMed and LiLACS databases, using the key words acute lung injury, acute respiratory distress syndrome and adult acute respiratory distress syndrome in combination with genetic polymorphisms, 69 papers were selected, from which 38 were included in this review. Were also considered relevant articles extracted from the reference lists in the articles selected from the databases. Genetic polymorphisms are gene variations in at least 1% population. These gene variations may influence the inflammatory response mediators' expression, directly affecting the susceptibility to acute lung injury, the intensity of lung parenchyma inflammation, the development clinical course and outcome. Association studies reproducible in large populations will definitely allow genomics to be included into the diagnostic and therapeutic armamentarium for acute lung injury/acute respiratory distress syndrome patients.
