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.

Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

“…Other inflammatory diseases including IBD accompany FMF with a gradually increasing frequency. In addition, the frequency of other inflammatory diseases (including juvenile rheumatoid arthritis) increases in conditions where IBD accompanies FMF (10)(11)(12). The fact that MEFV gene mutations are found with an increasing frequency in these inflammatory diseases supports this (13).…”

Familial Mediterranean fever—A review

“…109 However, some studies have found an increased frequency of MEFV mutations in persons with UC, especially those with episodic arthritis, and this may suggest a possible modifying effect of MEFV in the disease process. 21,110,111 Other studies have found that CD seems to be more prevalent in FMF and presents later than in patients without FMF. 112,113 FMF in this group of patients shows a higher attack frequency and is more often complicated by amyloidosis.…”

The Association of Inflammatory Bowel Disease and Mediterranean Fever Gene (MEFV) Mutations in Turkish Children

“…In Turkey, the estimated prevalence is 1/1,000 and the carrier rate is 1/5 [9,10]. An increased prevalence of some other inflammatory diseases with FMF has been reported, including IBD [11][12][13][14][15][16][17][18]. The gene responsible for FMF, MEFV, is located on chromosome 16p13 and encodes pyrin protein, which is believed to be associated with interleukin-1 (IL-1) and NFjB-related inflammation [19][20][21].…”

“…The studies about concordance of IBD and FMF suggested that there is a relation between IBD and FMF, and MEFV mutation has a disease-modifying effect on IBD [11][12][13][14][15][16][17][18]. IBD and FMF share some common clinical features such as abdominal pain, diarrhea, arthralgia, arthritis, and fever.…”