title: Detection of MEFV gene mutations in patients with inflammatory bowel disease.
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.
authors.affiliation: Department of Medical Biology and Genetics, Baskent University Faculty of Medicine, Ankara, Turkey.
authors.forename: Erkan
authors.initials: E
authors.lastname: Yurtcu
authors.forename: Hale
authors.initials: H
authors.lastname: Gokcan
authors.forename: Ugur
authors.initials: U
authors.lastname: Yilmaz
authors.forename: Feride Iffet
authors.initials: FI
authors.lastname: Sahin
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000209:etiology / Q000235:genetics; D003424:Crohn Disease / Q000209:etiology / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin