Surviving Sepsis May Be in the Genes

Chicago — (March 23, 2011) 

New research in the April issue of Anesthesiology shows for the first time a genetic marker in patients who have a greater likelihood of surviving sepsis.

“Sepsis is a severe illness where the body is overwhelmed by infection, and it is a leading cause of death in United States’ hospitals,” said Dr. Michael Adamzik, lead study investigator from the University of Duisburg-Essen Medical School, Germany. “We wanted to better understand whether survival was impacted by genetic markers so we could help more patients survive the infection.”

The researchers studied aquaporins (AQP) and evaluated the association between AQP genotype and survival in severe sepsis. These proteins act as water channels through biological membranes, including those of almost all cells in the human body, and regulate multiple physiological pathways. Patients with a particular AQP5 promoter genotype had a 3.6-fold increase in the risk of dying from sepsis.

About the Study
The study examined 154 Germans of Caucasian ethnicity with severe sepsis. The patients were genotyped for the AQP5 promoter polymorphism. Within the AQP5 promoter, researchers identified a genetic variant in some of the patients, which alters AQP5 expression. The study showed for the first time that this common genetic variation (A/C single nucleotide polymorphism) markedly influenced survival in severe sepsis. Survival rates were 57 percent for AA genotypes, and 83 percent for combined AC/CC genotypes. People with the C allele showed an increased 30-day survival in severe sepsis.

“Our plan is that with these findings, we will perform studies that will unravel the precise molecular mechanism by which this genetic variation improves survival, and that will potentially help us develop new treatments,” said Dr. Adamzik.

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