Detection of Mediterranean fever gene mutations in Egyptian children with inflammatory bowel disease
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Published on: March 10, 2020
Samia Salah1, Mortada El-Shabrawi1, Hala Mohamed Lotfy1
1Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
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.
Insights
Familial Mediterranean fever (FMF) gene mutations are common in Egyptian children with inflammatory bowel disease (IBD). Screening for these MEFV gene mutations is recommended, particularly for indeterminate colitis cases.
Area of Science:
- Genetics
- Gastroenterology
- Pediatrics
Background:
- Inflammatory bowel disease (IBD) encompasses ulcerative colitis, Crohn's disease, and indeterminate colitis.
- Familial Mediterranean fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene.
- Understanding genetic predispositions in IBD is crucial for elucidating pathogenesis.
Purpose of the Study:
- To determine the prevalence of MEFV gene mutations in Egyptian children diagnosed with IBD.
- To characterize patients with co-occurring FMF and IBD.
- To contribute to a better understanding of IBD pathogenesis.
Main Methods:
- A cohort of 17 ulcerative colitis, 15 Crohn's disease, and 10 indeterminate colitis patients were studied.
- 33 healthy Egyptian children served as controls.
- Genetic analysis involved testing for 12 MEFV gene mutations using multiplex PCR and reverse hybridization.
Main Results:
- A high prevalence of MEFV gene mutations was observed in IBD patients (88%) compared to controls (42.4%).
- Sequence variant V627A was the most frequent mutation found.
- No significant association was found between MEFV gene mutations and IBD phenotypic characteristics.
Conclusions:
- Screening for MEFV gene mutations is advisable for IBD patients in populations with high carrier rates, especially those with indeterminate colitis.
- Further research is needed to determine the allele frequency of MEFV gene mutations in the general Egyptian population.
- Identifying MEFV variants in IBD patients may offer insights into disease mechanisms.
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