Author/Editor		Urlep, D; Zagradišnik, B; Dolinšek, J; Mičetić-Turk, D; Kokalj-Vokač, N
Title		Genetski dejavniki kronične vnetne črevesne bolezni
Translated title		Genetic factors in inflammatory bowel disease
Type		članek
Source		In: Gregorič A, editor. Otrok s kronično črevesno boleznijo, bolečina pri otroku, zdravstveno varstvo otrok in mladine: organizacija, stroka, denar. Zbornik 15. srečanje pediatrov v Mariboru z mednarodno udeležbo in 2. srečanje medicinskih sester z mednarodno udeležbo; 2005 apr 15-16; Maribor. Maribor: Splošna bolnišnica Maribor,
Publication year		2005
Volume		str. 25-30
Language		slo
Abstract		Background. The inflammatory bowel diseases (IBD) comprise complex genetic disorders, with multiple contributing genes. In 2001 two groups, working independently, identified NOD2/CARD15 gene as the first candidate gene underlying Crohn's disease susceptibility. The NOD2/CARD15 gene codes for a receptor protein involved in the inflammatory response to bacterial components. Three major mutations within the coding region of this gene - 3020insC, R702W in G908R - have been associated with Crohn's disease in different Caucasian populations. The aim of our study was to determine the prevalence of the three principle NOD2 mutations in a cohort of our patients with Crohn's disease, coeliac disease and healthy controls. Methods. In our study 28 children and adolecents with Crohn's disease, 48 children and adolescents with coeliac disease and 97 healthy controls were included. DNA was isolated from white blood cells. Mutations 3020insC, R702W and G908R - were identified using the PCR-RFLP method. Results. Mutated alleles were found in 32% patients with Crohn's disease, 25% patients with coeliac disease and 6% healthy controls. NOD2/CARD15 variants were significantly more common among patients with Crohn's disease than among healthy control subjects and also among coeliac disease patients compared to healthy controls. There was no significant difference in the pre valence of NOD2/CARD15 variants between patients with Crohn's and coeliac disease. Conclusions. The discovery of NOD2/CARD15 gene as the first susceptibility gene for Crohn's disease represents a great achievement in understanding the pathogenesis of Crohn's disease. Three principal mutations of the gene have been found in 20-35% patients with Crohn's disease in different Caucasian populations. As NOD2/CARD15 mutations have not been found in the majority of CD patients, it is likely that some other genetic and environmental factors must be involved in the pathogenesis of CD. (Abstract truncated at 2000 characters)
Descriptors		INFLAMMATORY BOWEL DISEASES CROHN DISEASE CELIAC DISEASE ALLELES POLYMORPHISM, RESTRICTION FRAGMENT LENGTH POLYMERASE CHAIN REACTION