Association between MEFV Mutations M694V and M680I and Behçet’s Disease: A Meta-AnalysisReportar como inadecuado

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Several 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.


Literature 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.


Eligible 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.


The 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.

Autor: Ziyan Wu , Shulan Zhang , Jing Li , Si Chen, Ping Li, Fei Sun, Xiaoting Wen, Wenjie Zheng, Fengchun Zhang, Yongzhe Li



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