Association of the MEFV Gene Variations With Inflammatory Bowel Disease in Turkey
| Autor: | Cumhur G. Ekmekçi, Ahmet Gül, Sadakat Ozdil, Duran Ustek, Filiz Akyuz, Kadir Demir, Binnur Pinarbasi, Fatih Besisik, Aytul Uyar, Zeynel Mungan, Güngör Boztaş, Sabahattin Kaymakoglu |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Adolescent Genotype Turkey Gene mutation Pyrin domain Inflammatory bowel disease Young Adult Crohn Disease Risk Factors NOD2 medicine Humans Genetic Predisposition to Disease Crohn's disease business.industry Gastroenterology Case-control study Genetic Variation Middle Aged Pyrin medicine.disease MEFV Ulcerative colitis digestive system diseases Cytoskeletal Proteins Case-Control Studies Immunology Colitis Ulcerative Female business Follow-Up Studies |
| Zdroj: | Journal of Clinical Gastroenterology. 47:e23-e27 |
| ISSN: | 0192-0790 |
| Popis: | Association of NOD2 (CARD15) gene mutations with inflammatory bowel diseases (IBD) is well known. We herein aimed to investigate the role of familial Mediterranean fever-associated MEFV variations in IBD patients as additional regional-specific risk factor.One hundred thirty-seven (78 female, 56.9%) IBD patients [62 Crohn's disease (CD), 75 ulcerative colitis (UC)] were enrolled into the study. The diagnosis of all patients was confirmed by colonoscopy, histopathology, and the clinical findings. One hundred one healthy donors' samples were used as healthy controls. All patients were genotyped for the most common E148Q, M608I, M694V, and V726A variations of the MEFV and R702W, G908R, and 1007fs of the NOD2.The overall MEFV variation frequency was found to be higher in the IBD (25.5%) patients (28% in UC, 22.6% in CD) compared with controls (9.9%, P=0.006). This association was stronger with the penetrant exon 10 variations (M694V, M680I, V726A; odds ratio =4.5, P=0.001). Contribution of M694V was higher compared with the other variations (14.5% in CD, 17.3% in UC and 3% in controls, odds ratio =6.039, 95% confidence intervals, 1.7-20.7, P=0.002). The overall frequency of 3 NOD2 variants in the IBD group was not different from that of controls.The results of this study suggest that the MEFV variations may be an additional susceptibility factor for IBD in certain parts of the world where the carrier rate is high, and the genetic background of the IBD patients may show regional changes. |
| Databáze: | OpenAIRE |
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