Naslov
NOD2/CARD15 gene SNPs in Croatian population

Autori
Kapitanović, Sanja ; Jokić, Mladen ; Poparić, Ivana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
European Biomarkers Summit 2006 / - Prag : Selected Biosciences, 2006

Skup
European Biomarkers Summit

Mjesto i datum
Prag, Češka Republika, 25.09.2006. - 27.09.2006

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
NOD2; SNPs

Sažetak
Introduction: Inflammatory bowel disease (IBD) is a disorder characterized by chronic inflammation of the gastrointestinal tract. There are two clinical subtypes, Crohn's disease (CD) and ulcerative colitis (UC).It was showed that three rare SNPs (R702W, SNP8 ; G908R, SNP12 and 1007fs, SNP13) in CARD15 gene are independently associatd with CD. These three main mutations are carried by 25-30% of CD patients and 7-15% of healthy controls. Mutated homozygotes and compound heterozygotes are carried by 15-20% of CD patients. Aim: The aim of our study was to estimate frequency for three main SNPs in NOD2/CARD15 gene in the Croatian population. Materials and methods: DNAs obtained from 160 unrelated healthy individuals were analyzed for R702W, G908R and 1007fs SNPs using PCR-RFLP method and real-time PCR Taqman&reg ; SNP genotyping assays. Results and conclusion: The frequency of mutated heterozygous NOD2/CARD15 genotype in Croatian population was 11.5%. The frequency of the three SNPs of the NOD2/CARD15 gene were: 3.8% for SNP8 (R702W), 3.2% for SNP12 (G908R) and 4.5% for SNP13 (1007fs). Mutated homozygotes and compound heterozygotes were not detected in any of the samples analyzed. In conclusion our results demonstrate that SNP13 is a common NOD2/CARD15 SNP in the Croatian population.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA