CARD15 gene polymorphisms in Serbian patients with Crohnʼs disease: genotype–phenotype analysis
| Autor: | Petar Svorcan, Dino Tarabar, Marijana Protic, N. Jojic, Zoran Radojicic, Sonja Pavlovic, Mina V. Godjevac, Miodrag Krstic, Teodora Karan Djurasevic, Ana Z. Stevanovic, Daniela Bojic, Branka Dapcevic |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Adolescent Genotype Population Nod2 Signaling Adaptor Protein White People Crohn Disease Gene Frequency Polymorphism (computer science) Humans Medicine Genetic Predisposition to Disease Age of Onset Allele education Aged education.field_of_study Chi-Square Distribution Polymorphism Genetic Hepatology business.industry Genetic heterogeneity Gastroenterology Odds ratio Middle Aged Penetrance Genotype frequency Logistic Models Phenotype Case-Control Studies Immunology Colitis Ulcerative Female business Polymorphism Restriction Fragment Length Follow-Up Studies |
| Zdroj: | European Journal of Gastroenterology & Hepatology. 20:978-984 |
| ISSN: | 0954-691X |
| Popis: | Objective Genetic heterogeneity and incomplete phenotype penetrance complicate genetic analysis of Crohn's disease (CD). Studies in western Europe have shown that CARD15 polymorphisms increase susceptibility to CD, but frequencies vary within different European populations. The aim here was to evaluate the prevalence of CARD15 mutations and their phenotypic correlation in a Serbian population. Materials and methods 131 patients with CD, 65 patients with ulcerative colitis, and 88 healthy controls were genotyped for three common mutations (R702W, G908R, Leu1007insC) by PCR-restriction fragment length polymorphism. Χ 2 and Student's t-test were used for statistical assessment. Results At least one CARD15 disease-associated allele was found in 35.11 % patients with CD, 14.77% of healthy controls (P= 0.001), and 7.69°/o patients with ulcerative colitis (P=0.0001). The L1007fs mutation showed a significant association with CD (P |
| Databáze: | OpenAIRE |
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