Aim: The aim of the current study is to investigate the prevalence of familial Mediterranean fever gene (MEFV) mutations in a cohort of Egyptian children with inflammatory bowel disease (IBD), and to characterize familial Mediterranean fever (FMF)-IBD patients, helping better understanding of IBD pathogenesis.
Methods: The study enrolled 17 patients with ulcerative colitis (UC), 15 with Crohn's disease(CD), 10 with indeterminate colitis (IC) and 33 healthy children as controls. All cases and controls were tested for 12 FMF gene mutations by reverse hybridization after multiplex polymerase chain reaction amplification and DNA sampling.
Results: Eighty-eight percent of the IBD patients carried the mutations, with Sequence variant V627A being the commonest versus 42.4% of controls. No associations were found between MEFV gene mutations, and phenotypic characteristics of IBD patients.
Conclusion: IBD patients, in populations with a high background carrier rate of MEFV variants, should be screened for MEFV gene mutations, especially those diagnosed as indeterminate colitis. Testing larger numbers of healthy Egyptian children for MEFV gene mutation is important to further determine the allele frequency in Egypt.
Keywords: disease; etiology and pathogenesis - human; immunogenetics; paediatric rheumatology; pediatric rheumatology; sasic sciences.
© 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.