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Detection of MEFV gene mutations in patients with inflammatory bowel disease.
- Source :
-
Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2009 Feb; Vol. 13 (1), pp. 87-90. - Publication Year :
- 2009
-
Abstract
- Inflammatory bowel disease (IBD) with ulcerative colitis (UC) and Crohn's disease (CD) as the most common forms is an inflammation of the gastrointestinal tract. Familial Mediterranean fever (FMF) is another inflammatory disease as well. In the current study we studied FMF gene mutations in 47 patients with IBD and 25 healthy individuals to investigate the effects of these mutations on the clinical status of IBD. Twelve mutations were analyzed by reverse hybridization after multiplex PCR amplification of DNA samples. We did not find an association between FMF gene mutations and IBD phenotypic characteristics. However, in patients without Mediterranean fever (MEFV) mutations, extraintestinal disease frequencies were higher (p<0.05). IBD has a genetic basis with multiple genes probably playing a role via several pathways during disease progression. Studying other genes interacting with FMF gene in a larger group of patients will add to the knowledge of disease pathogenesis.
- Subjects :
- Adult
Alleles
Case-Control Studies
Colitis, Ulcerative etiology
Colitis, Ulcerative genetics
Crohn Disease etiology
Crohn Disease genetics
DNA Mutational Analysis
Familial Mediterranean Fever genetics
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Inflammatory Bowel Diseases etiology
Male
Middle Aged
Phenotype
Point Mutation
Polymerase Chain Reaction
Pyrin
Cytoskeletal Proteins genetics
Inflammatory Bowel Diseases genetics
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1945-0257
- Volume :
- 13
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Genetic testing and molecular biomarkers
- Publication Type :
- Academic Journal
- Accession number :
- 19309279
- Full Text :
- https://doi.org/10.1089/gtmb.2008.0094