CARD15 gene polyrnorphisms in Serbian patients with Crohn's disease: genotype-phenotype analysis
Само за регистроване кориснике
2008
Аутори
Protić, Marijana B.Pavlović, Sonja
Bojić, Daniela Z.
Krstić, Miodrag N.
Radojicić, Zoran A.
Tarabar, Dino K.
Stevanović, Ana Z.
Karan-Đurašević, Teodora
Godjevac, Mina V.
Svorcan, Petar V.
Dapcević, Branka D.
Jojić, Njegica Z.
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Objective Genetic heterogeneity and incomplete phenotype penetrance complicate genetic analysis of Crohn's disease (M. 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. chi(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% patients with ulcerative colitis (P= 0.0001). The L1007fs mutation showed a significant association with CD (P lt 0.0001). The frequency of R702W mutant allele was almost equ...al in the control group and CD patients Univariate analyses established that CARD15 carriers had a significantly higher risk of isolated ileal location [P=0.042; odds ratio (OR) 2.30; 95% confidence interval (CI): 1.02-5.191, fibrostenotic behavior (P lt 0.0001; OR 9.86; 95% CI: 4.29-22.62), surgical resection (P=0.036; OR 2.2; CI, 1.046-4.626), and earlier onset of disease (P=0.026). Conclusion This study confirms that CARD15 carriers, especially L1007fs mutants, in central Europeans have an increased risk of CD and it is associated with earlier onset, ileal, fibrostenotic disease and a higher risk of surgery. Any influence of latitude is not matched by an east-west divide on the genotype frequency and phenotype of CD within Europe.
Кључне речи:
genotype-phenotype analysis / Crohn's disease / CARD15 geneИзвор:
European Journal of Gastroenterology & Hepatology, 2008, 20, 10, 978-984Издавач:
- Lippincott Williams & Wilkins, Philadelphia
Финансирање / пројекти:
- Структурални елементи генома у модулацији фенотипа (RS-MESTD-MPN2006-2010-143051)
DOI: 10.1097/MEG.0b013e328302f45e
ISSN: 0954-691X
PubMed: 18787464
WoS: 000259731600006
Scopus: 2-s2.0-53549127562
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Protić, Marijana B. AU - Pavlović, Sonja AU - Bojić, Daniela Z. AU - Krstić, Miodrag N. AU - Radojicić, Zoran A. AU - Tarabar, Dino K. AU - Stevanović, Ana Z. AU - Karan-Đurašević, Teodora AU - Godjevac, Mina V. AU - Svorcan, Petar V. AU - Dapcević, Branka D. AU - Jojić, Njegica Z. PY - 2008 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/335 AB - Objective Genetic heterogeneity and incomplete phenotype penetrance complicate genetic analysis of Crohn's disease (M. 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. chi(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% patients with ulcerative colitis (P= 0.0001). The L1007fs mutation showed a significant association with CD (P lt 0.0001). The frequency of R702W mutant allele was almost equal in the control group and CD patients Univariate analyses established that CARD15 carriers had a significantly higher risk of isolated ileal location [P=0.042; odds ratio (OR) 2.30; 95% confidence interval (CI): 1.02-5.191, fibrostenotic behavior (P lt 0.0001; OR 9.86; 95% CI: 4.29-22.62), surgical resection (P=0.036; OR 2.2; CI, 1.046-4.626), and earlier onset of disease (P=0.026). Conclusion This study confirms that CARD15 carriers, especially L1007fs mutants, in central Europeans have an increased risk of CD and it is associated with earlier onset, ileal, fibrostenotic disease and a higher risk of surgery. Any influence of latitude is not matched by an east-west divide on the genotype frequency and phenotype of CD within Europe. PB - Lippincott Williams & Wilkins, Philadelphia T2 - European Journal of Gastroenterology & Hepatology T1 - CARD15 gene polyrnorphisms in Serbian patients with Crohn's disease: genotype-phenotype analysis EP - 984 IS - 10 SP - 978 VL - 20 DO - 10.1097/MEG.0b013e328302f45e ER -
@article{ author = "Protić, Marijana B. and Pavlović, Sonja and Bojić, Daniela Z. and Krstić, Miodrag N. and Radojicić, Zoran A. and Tarabar, Dino K. and Stevanović, Ana Z. and Karan-Đurašević, Teodora and Godjevac, Mina V. and Svorcan, Petar V. and Dapcević, Branka D. and Jojić, Njegica Z.", year = "2008", abstract = "Objective Genetic heterogeneity and incomplete phenotype penetrance complicate genetic analysis of Crohn's disease (M. 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. chi(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% patients with ulcerative colitis (P= 0.0001). The L1007fs mutation showed a significant association with CD (P lt 0.0001). The frequency of R702W mutant allele was almost equal in the control group and CD patients Univariate analyses established that CARD15 carriers had a significantly higher risk of isolated ileal location [P=0.042; odds ratio (OR) 2.30; 95% confidence interval (CI): 1.02-5.191, fibrostenotic behavior (P lt 0.0001; OR 9.86; 95% CI: 4.29-22.62), surgical resection (P=0.036; OR 2.2; CI, 1.046-4.626), and earlier onset of disease (P=0.026). Conclusion This study confirms that CARD15 carriers, especially L1007fs mutants, in central Europeans have an increased risk of CD and it is associated with earlier onset, ileal, fibrostenotic disease and a higher risk of surgery. Any influence of latitude is not matched by an east-west divide on the genotype frequency and phenotype of CD within Europe.", publisher = "Lippincott Williams & Wilkins, Philadelphia", journal = "European Journal of Gastroenterology & Hepatology", title = "CARD15 gene polyrnorphisms in Serbian patients with Crohn's disease: genotype-phenotype analysis", pages = "984-978", number = "10", volume = "20", doi = "10.1097/MEG.0b013e328302f45e" }
Protić, M. B., Pavlović, S., Bojić, D. Z., Krstić, M. N., Radojicić, Z. A., Tarabar, D. K., Stevanović, A. Z., Karan-Đurašević, T., Godjevac, M. V., Svorcan, P. V., Dapcević, B. D.,& Jojić, N. Z.. (2008). CARD15 gene polyrnorphisms in Serbian patients with Crohn's disease: genotype-phenotype analysis. in European Journal of Gastroenterology & Hepatology Lippincott Williams & Wilkins, Philadelphia., 20(10), 978-984. https://doi.org/10.1097/MEG.0b013e328302f45e
Protić MB, Pavlović S, Bojić DZ, Krstić MN, Radojicić ZA, Tarabar DK, Stevanović AZ, Karan-Đurašević T, Godjevac MV, Svorcan PV, Dapcević BD, Jojić NZ. CARD15 gene polyrnorphisms in Serbian patients with Crohn's disease: genotype-phenotype analysis. in European Journal of Gastroenterology & Hepatology. 2008;20(10):978-984. doi:10.1097/MEG.0b013e328302f45e .
Protić, Marijana B., Pavlović, Sonja, Bojić, Daniela Z., Krstić, Miodrag N., Radojicić, Zoran A., Tarabar, Dino K., Stevanović, Ana Z., Karan-Đurašević, Teodora, Godjevac, Mina V., Svorcan, Petar V., Dapcević, Branka D., Jojić, Njegica Z., "CARD15 gene polyrnorphisms in Serbian patients with Crohn's disease: genotype-phenotype analysis" in European Journal of Gastroenterology & Hepatology, 20, no. 10 (2008):978-984, https://doi.org/10.1097/MEG.0b013e328302f45e . .