NOD2/CARD15 mutations in Polish and Bosnian populations with and without Crohn's disease: prevalence and genotype-phenotype analysis

  • Nermin N Salkic Department of Gastroenterology and Hepatology University Clinical Center Tuzla
  • Grazyna Adler Department of Gerontobiology, Pomeranian Medical University, Szczecin
  • Iwona Zawada Department of Gastroenterology, Pomeranian Medical University, Szczecin
  • Ervin Alibegovic Department of Gastroenterology and Hepatology University Clinical Center Tuzla
  • Beata Karakiewicz Public Health Department, Pomeranian Medical University, Szczecin
  • Anna Kozlowska-Wiechowska Private Health Care Sonomed, Szczecin
  • Michał Wasilewicz Liver and Internal Medicine Unit, Department of General, Transplant and Liver Surgery, Medical University of Warsaw, Warszawa
  • Violetta Sulzyc-Bielicka 7Department of Clinical Oncology, Pomeranian Medical University, Szczecin
  • Dariusz Bielicki
Keywords: NOD2/CARD15 gene, Crohn's disease, genotype-phenotype analysis, gene frequency, Poland, Bosnia and Herzegovina


Data on prevalence and phenotypic consequences of nucleotide-binding oligomerisation domain 2/caspase recruitment domains 15 (NOD2/CARD15) variants in Crohn's disease (CD) population in Poland and Bosnia and Herzegovina (B&H) are nonexistent. We aimed to determine the prevalence of NOD2/CARD15 mutations and their association with disease phenotype in Polish and Bosnian patients with CD and in healthy controls. We prospectively recruited 86 CD patients and 83 controls in Poland and 30 CD patients and 30 controls in B&H, 229 in total. We determined the prevalence of NOD2/CARD15 mutations and their association with the disease phenotype according to Montreal classification. Participants were genotyped for Leu1007fsinsC and Gly908Arg mutations. At least one CD-associated allele was found in 29/86 (33.7%) of Polish CD patients and in 9/83 (10.8%) of healthy controls (p<0.001). In both CD patients and controls in Bosnian sample, at least one NOD2 mutation was found in equal number of patients (3/30; 10%) with all of the NOD2 mutation positive CD patients being homozygous, while controls being heterozygous. In Polish sample, perianal disease was less frequent in CD patients with any NOD2 mutation (1/21; 4.8%) compared to those without (11/41; 26.8%; p=0.046). Higher percentage of patients with NOD2 mutations had history of CD related surgery when compared with those without mutations (66.7% vs. 43.3%; p=0.05). The risk for CD is increased in patients with NOD2 mutations (Poland) and especially in the presence of homozygous NOD2 mutations (Poland and Bosnia). The presence of variant NOD2 alleles is associated with increased need for surgery and reduced occurrence of perianal disease.


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How to Cite
Salkic NN, Adler G, Zawada I, Alibegovic E, Karakiewicz B, Kozlowska-Wiechowska A, Wasilewicz M, Sulzyc-Bielicka V, Bielicki D. NOD2/CARD15 mutations in Polish and Bosnian populations with and without Crohn’s disease: prevalence and genotype-phenotype analysis. Bosn J of Basic Med Sci [Internet]. 2015May25 [cited 2019Nov.14];15(2):67-2. Available from:
Translational and Clinical Research