Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease.

S Sahin,D Gulec,C Cekic,S Günay,Gian Luigi Adani

doi:10.1155/2021/5538150

Abstract

Background The clinical and pathological features of inflammatory bowel disease (IBD) and Familial Mediterranean Fever (FMF) are similar. Objective Here, the frequency of Mediterranean Fever (MEFV) gene mutation and its effect on the outcome of IBD were evaluated. Methods DNA sequence analysis detected the variants on the MEFV gene in patients with IBD. The relationship between mutations and the need for steroids, immunomodulators, biologics, and surgery was assessed. Results We evaluated 100 patients with IBD (55 with ulcerative colitis (UC) and 45 with Crohn's disease (CD)) and 60 healthy individuals as controls. The frequency of MEFV gene mutation was 26.7% (n = 12) and 14.5% (n = 8) for UC and CD, respectively. No relationship was found between MEFV gene mutation and the need for steroids, immunomodulators, and biologics (p = 0.446; p = 0.708; p > 0.999, resp.); however, in UC, the need for surgery in those with mutation (p = 0.018) and E148Q mutation alone was significant (p = 0.037). Conclusion The rate of MEFV gene mutations was high in patients with UC who required surgery. These patients have frequent and severe attacks, indicating that the mutations are related to disease severity. MEFV mutation as a modifier factor of IBD should be considered.

Highlights

The pathogenesis of inflammatory bowel diseases (IBD), including ulcerative colitis (UC) and Crohn’s disease (CD), is affected by environmental factors, leading to an uncontrolled immune response in genetically sensitive people [1]
The NOD2/CARD15 gene is responsible for the synthesis of proteins that activate the nuclear factor kappa B (NFκB), which has a role in apoptosis and innate immune response, and the susceptibility gene mutations of NOD2/CARD15 are the first to be associated with IBD [2]
We evaluated 100 patients with IBD (55 with UC and 45 CD) and 60 healthy controls (HC)

Summary

Background

The clinical and pathological features of inflammatory bowel disease (IBD) and Familial Mediterranean Fever (FMF) are similar. The frequency of Mediterranean Fever (MEFV) gene mutation and its effect on the outcome of IBD were evaluated. The relationship between mutations and the need for steroids, immunomodulators, biologics, and surgery was assessed. No relationship was found between MEFV gene mutation and the need for steroids, immunomodulators, and biologics (p = 0:446 ; p = 0:708 ; p > 0:999, resp.); in UC, the need for surgery in those with mutation (p = 0:018) and E148Q mutation alone was significant (p = 0:037). The rate of MEFV gene mutations was high in patients with UC who required surgery. These patients have frequent and severe attacks, indicating that the mutations are related to disease severity. MEFV mutation as a modifier factor of IBD should be considered

Introduction

Materials and Methods

Results

Discussion