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Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs

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العنوان: Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs
المؤلفون: Libor Vítek, P Szitanyi, Radana Kotalova, Jiří Nevoral, Martin Lenicek, Milan Lukas, R Petro, V. Starzykova, Ondrej Hradsky, V. Valtrova, Petra Dusatkova, Ondrej Cinek, Martin Bortlik, Jiri Bronsky
المصدر: Tissue antigens. 71(6)
سنة النشر: 2008
مصطلحات موضوعية: Adult, Male, Adolescent, Immunology, Population, Nod2 Signaling Adaptor Protein, Biology, Biochemistry, PTPN22, Crohn Disease, Gene Frequency, Polymorphism (computer science), Genotype, Genetics, Immunology and Allergy, Humans, Genetic Predisposition to Disease, Allele, Age of Onset, education, Child, Allele frequency, Czech Republic, education.field_of_study, Tumor Necrosis Factor-alpha, Protein Tyrosine Phosphatase, Non-Receptor Type 22, General Medicine, Minor allele frequency, Phenotype, Case-Control Studies, Female, Age of onset
الوصف: 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.
تدمد: 0001-2815
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb92d8179dfc8c2605ebe849c9e91c0a
https://pubmed.ncbi.nlm.nih.gov/18489434
Rights: CLOSED
رقم الانضمام: edsair.doi.dedup.....eb92d8179dfc8c2605ebe849c9e91c0a
قاعدة البيانات: OpenAIRE
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