title: NOD2/CARD15 mutations in Polish and Bosnian populations with and without Crohn's disease: prevalence and genotype-phenotype analysis.
abstract: 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&amp;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&amp;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&lt;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.
authors.affiliation: Department of Gastroenterology and Hepatology University Clinical Center Tuzla. snermin@gmail.com.
authors.forename: Nermin N
authors.initials: NN
authors.lastname: Salkic
authors.forename: Grazyna
authors.initials: G
authors.lastname: Adler
authors.forename: Iwona
authors.initials: I
authors.lastname: Zawada
authors.forename: Ervin
authors.initials: E
authors.lastname: Alibegovic
authors.forename: Beata
authors.initials: B
authors.lastname: Karakiewicz
authors.forename: Anna
authors.initials: A
authors.lastname: Kozlowska-Wiechowska
authors.forename: Michał
authors.initials: M
authors.lastname: Wasilewicz
authors.forename: Violetta
authors.initials: V
authors.lastname: Sulzyc-Bielicka
authors.forename: Dariusz
authors.initials: D
authors.lastname: Bielicki
mesh_terms: D000328:Adult; D000483:Alleles; D017522:Bosnia and Herzegovina / Q000453:epidemiology; D016022:Case-Control Studies; D003424:Crohn Disease / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D010641:Phenotype; D011044:Poland / Q000453:epidemiology; D015995:Prevalence; D011446:Prospective Studies; D012307:Risk Factors
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein