Q112376310
Dotaz
Zobrazit nápovědu
- Klíčová slova
- Remicade,
- MeSH
- biologická terapie metody normy MeSH
- Crohnova nemoc farmakoterapie terapie MeSH
- lidé MeSH
- monoklonální protilátky aplikace a dávkování kontraindikace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- směrnice pro lékařskou praxi MeSH
Crohn's disease (CD) has been shown to be associated with the variants in the CARD15 gene as well as in other genes involved in the immune response. The frequencies of the variants profoundly differ among populations and so does the associated risk. We examined the associations of variants in the CARD15, TNFA and PTPN22 genes with pediatric-onset and adult-onset CD in the Czech population. Genotype, phenotype and allelic frequencies were compared between 345 patients with CD (136 pediatric-onset and 209 adult-onset patients) and 501 unrelated healthy controls. At least one minor allele of the CARD15 gene was carried by 46% patients and only 21% control subjects (OR = 3.2, 95% CI 2.4-4.4). In a multiple logistic regression model, the strongest association with CD was found for the 1007fs variant (OR = 4.6, 95% CI 3.0-7.0), followed by p.G908R (OR = 2.9, 95% CI 1.5-5.7) and p.R702W (OR = 1.7, 95% CI 1.0-2.9), while no independent association was found for the remaining variants in the CARD15 gene (p.268S, p.955I and p.289S), for the p.R620W variant in the PTPN22 gene or for the g.-308G>A variant in the TNFA gene. The age at CD onset was strongly modified by positivity for the 1007fs allele: it was present in 42% pediatric-onset and only 25% adult-onset patients. In conclusion, we report a high frequency of the minor allele of the CARD15 1007fs polymorphism in the Czech population and a strong effect of this allele on the age at disease onset.
- MeSH
- Crohnova nemoc genetika imunologie MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp MeSH
- financování organizované MeSH
- frekvence genu MeSH
- genetická predispozice k nemoci MeSH
- lidé MeSH
- mladiství MeSH
- signální adaptorový protein Nod2 genetika imunologie MeSH
- studie případů a kontrol MeSH
- TNF-alfa genetika imunologie MeSH
- tyrosinfosfatasa nereceptorového typu 22 genetika imunologie MeSH
- věk při počátku nemoci MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- multicentrická studie MeSH
- Geografické názvy
- Česká republika MeSH
- MeSH
- akutní nemoc epidemiologie MeSH
- dítě MeSH
- lidé MeSH
- surveillance populace MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Geografické názvy
- Československo MeSH
