Abstract
ObjectiveSeveral studies have identified an association between Behçet’s disease (BD) and mutations in the Mediterranean fever (MEFV) gene, which was originally linked to the autosomal recessive disease, Familial Mediterranean fever. However, no consensus has been reached. Here, a meta-analysis was conducted on published data to comprehensively evaluate this relationship.MethodsLiterature searches were performed in Pubmed, Embase, the Web of Science, and HuGE Navigator databases, in order to identify studies pertaining to the association between MEFV mutations and BD. Two investigators independently extracted and evaluated the data from eligible studies. The association between MEFV mutations (M694V, M680I, and E148Q) and BD was estimated overall by the odds ratio (OR) and 95% confidence intervals (95% CI). Further analysis was conducted with STATA 12.0 software (Stata Corp.; College Station, TX).ResultsEligible studies (n=8) included genotyping data obtained from 2538 BD patients and 2792 healthy controls. Of the three mutations, M694V (pooled OR: 2.60, 95% CI: 2.02-3.34) and M680I (pooled OR: 1.74, 95% CI: 1.23-2.46) were found to be associated with BD in the overall analysis. The third mutation, E148Q, however, was not found to be linked with BD (pooled OR: 1.26, 95% CI: 0.69-2.31). Subgroup analysis furthermore revealed that M694V and M680I were risk loci for BD specifically in Turkish patients.ConclusionsThe meta-analysis confirmed that MEFV mutations M694V and M680I were associated with BD. Additional studies from other ethnic populations and functional experiments are necessary to determine the extent to which the MEFV gene underlies the development of BD.
Highlights
Behçet’s disease (BD) is a systemic vasculitis characterized by recurrent aphthous ulceration, genital ulcers, ocular inflammation, and skin lesions
M694V and M680I were found to be associated with BD in the overall analysis
The third mutation, E148Q, was not found to be linked with BD
Summary
Behçet’s disease (BD) is a systemic vasculitis characterized by recurrent aphthous ulceration, genital ulcers, ocular inflammation, and skin lesions. Certain clinical characteristics are shared by BD and FMF patients, including a unique ethnic prevalence, pathogenesis, and treatment protocols, despite a wide range in clinical manifestations [3,4]. Both BD and FMF, for example, are observed all around the Mediterranean basin, with BD occurring more frequently along the ancient Silk Road, which extended from Asia to the Mediterranean [5,6]. The intersection of some disease characteristics has led to the proposal that a common genetic susceptibility exists between BD and FMF [7,8,9]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
