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Impact of Mediterranean Fever Gene Mutations on Clinical Characteristics in Patients With Inflammatory Bowel Disease
Tomoya Nakamura1, Kohei Wagatsuma1, Yuki Hayashi1
1Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido, Japan.
Background And Aims:
The Mediterranean fever (MEFV) gene, which encodes a pyrin protein, is the causative gene of familial Mediterranean fever. Patients with inflammatory bowel disease (IBD) have a significantly higher frequency of MEFV mutations than healthy controls; however, the pathological significance of this difference remains unknown. This study investigated the relationship between MEFV mutations and the clinical characteristics of IBD and refractoriness in patients with a confirmed diagnosis of ulcerative colitis (UC) or Crohn's disease (CD).
Methods:
This retrospective cohort included 260 patients with UC and 131 patients with CD who visited Sapporo Medical University Hospital or Kyorin University Hospital from April 2021 to March 2023. Demographic and clinical data were collected, and blood samples were examined for MEFV mutations using next generation sequencing.
Results:
Mutations of the MEFV gene were found in 60.8% of UC and 56.5% of CD patients. Two or more overlapping mutations were identified in 26.2% patients with UC and 19.8% patients with CD. In patients with IBD, mutations in exons 2 and 3 were associated with extraintestinal manifestations (EIMs), and the coexistence of exon 2 and 3 mutations further strengthened this association. G250R (P = .0096, odds ratio 3.49 [1.36-8.98]) and G304R (P = .039, odds ratio 2.62 [1.05-6.54]) in exon 2, and P373Q (P = .0016, odds ratio 7.86 [2.19-28.26]) in exons 3, were significantly associated with EIMs; when stratifying patients with IBD, this trend was observed in patients with UC, but not in those with CD.
Conclusion:
The MEFV mutation rate was higher in Japanese patients with UC and CD than in healthy controls. MEFV mutations could influence EIMs in patients with IBD.
Insights
Mediterranean fever (MEFV) gene mutations are common in Japanese patients with inflammatory bowel disease (IBD). These MEFV mutations are linked to extraintestinal manifestations in ulcerative colitis and Crohn's disease patients.
Area of Science:
- Genetics
- Gastroenterology
- Immunology
Background:
- The Mediterranean fever (MEFV) gene encodes pyrin protein and causes familial Mediterranean fever.
- Inflammatory bowel disease (IBD) patients exhibit a higher frequency of MEFV mutations compared to healthy individuals, though the clinical significance is unclear.
- This study examines the association between MEFV mutations and clinical characteristics, including refractoriness, in ulcerative colitis (UC) and Crohn's disease (CD).
Purpose of the Study:
- To investigate the relationship between MEFV gene mutations and clinical features of IBD.
- To determine if MEFV mutations are associated with disease refractoriness in UC and CD patients.
- To explore the impact of MEFV mutations on extraintestinal manifestations (EIMs) in IBD.
Main Methods:
- Retrospective cohort study including 260 UC and 131 CD patients from April 2021 to March 2023.
- Collected demographic and clinical data, and performed next-generation sequencing for MEFV mutations.
- Analyzed the association between specific MEFV mutations and clinical characteristics, including EIMs.
Main Results:
- MEFV mutations were detected in 60.8% of UC and 56.5% of CD patients.
- Mutations in exons 2 and 3, particularly G250R, G304R, and P373Q, were significantly associated with EIMs in IBD patients.
- This association between MEFV mutations and EIMs was prominent in UC patients but not in CD patients.
Conclusions:
- Japanese patients with UC and CD show a higher prevalence of MEFV mutations than healthy controls.
- MEFV mutations may play a role in the development of EIMs in patients with IBD.
- Specific MEFV mutations are linked to EIMs, suggesting a potential genetic influence on disease presentation.
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