title: Influence of genetic variations in the SOD1 gene on the development of ascites and spontaneous bacterial peritonitis in decompensated liver cirrhosis.
abstract: BACKGROUND
  The balance between generation and elimination of reactive oxygen species by superoxide dismutase (SOD) is crucially involved in the pathophysiology of liver cirrhosis. Reactive oxygen species damage cells and induce inflammation/fibrosis, but also play a critical role in immune defense from pathogens. As both processes are involved in the development of liver cirrhosis and its complications, genetic variation of the SOD1 gene was investigated.
  
  
  METHODS
  Two SOD1 single nucleotide polymorphisms (rs1041740 and rs3844942) were analyzed in 49 cirrhotic patients undergoing liver transplantation. In addition, 344 cirrhotic patients with ascites were analyzed in a cohort of 521 individuals in terms of the relationship of these polymorphisms with spontaneous bacterial peritonitis (SBP).
  
  
  RESULTS
  Although rs3844942 showed no associations with complications of cirrhosis, we observed a significant association between rs1041740 and the presence of ascites and SBP in the discovery cohort of patients with cirrhosis. Importantly, the association with SBP was not confirmed in the validation cohort of patients with ascites. By contrast, a trend toward lower SBP rates was observed in carriers of rs1041740. In this cohort, rs1041740 was not associated with survival.
  
  
  CONCLUSIONS
  These data suggest a complex role of SOD1 in different processes leading to complications of liver cirrhosis. rs1041740 might be associated with the development of ascites and possibly plays a role in SBP once ascites has developed.
authors.affiliation: aDepartment of Internal Medicine I bInstitute of Experimental Immunology, University of Bonn cGerman Center for Infection Research, partner site Bonn-Cologne, Bonn dDepartment of Medicine II, Saarland University Medical Center, Homburg, Germany eFaculty of Health Sciences, University of Southern Denmark, Odense, Denmark fEuropean Foundation for Chronic Liver Failure gInstitute for Bioengineering of Catalonia, Barcelona, Spain.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Schwab
authors.forename: Jennifer
authors.initials: J
authors.lastname: Lehmann
authors.forename: Philipp
authors.initials: P
authors.lastname: Lutz
authors.forename: Christian
authors.initials: C
authors.lastname: Jansen
authors.forename: Beate
authors.initials: B
authors.lastname: Appenrodt
authors.forename: Frank
authors.initials: F
authors.lastname: Lammert
authors.forename: Christian P
authors.initials: CP
authors.lastname: Strassburg
authors.forename: Ulrich
authors.initials: U
authors.lastname: Spengler
authors.forename: Hans-Dieter
authors.initials: HD
authors.lastname: Nischalke
authors.forename: Jonel
authors.initials: J
authors.lastname: Trebicka
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001201:Ascites / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D016022:Case-Control Studies; D018450:Disease Progression; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018384:Oxidative Stress; D010538:Peritonitis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000382:microbiology; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D017382:Reactive Oxygen Species / Q000378:metabolism; D012307:Risk Factors; D000072105:Superoxide Dismutase-1 / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D017382:Reactive Oxygen Species; C000606290:SOD1 protein, human; D000072105:Superoxide Dismutase-1