Association between MEFV Mutations M694V and M680I and Behcet's Disease: A Meta-Analysis
Association between MEFV Mutations M694V and M680I and Behcet's Disease: A Meta-Analysis
复制标题
MEFV 突变 M694V 和 M680I 与白塞病之间的关联：荟萃分析
DOI：
10.1371/journal.pone.0132704
复制
发表时间：
2015-07-15
期刊：
影响因子：
3.7
通讯作者：
Li, Yongzhe
中科院分区：
文献类型：
--
作者：
Wu, Ziyan;Zhang, Shulan;Li, Yongzhe
目的多项研究已确定白塞氏病 (BD) 与地中海热 (MEFV) 基因突变之间的关联，该基因最初与常染色体隐性遗传病、家族性地中海热有关。但尚未达成共识。这里，对已发表的数据进行荟萃分析，以全面评估这种关系。方法在 Pubmed、Embase、Web of Science 和 HuGE Navigator 数据库中进行文献检索，以确定有关 MEFV 突变与 BD 之间关联的研究。两名研究人员独立提取并评估符合条件的研究的数据。 MEFV 突变（M694V、M680I 和 E148Q）与 BD 之间的关联通过优势比 (OR) 和 95% 置信区间 (95% CI) 进行总体评估。使用 STATA 12.0 软件（Stata Corp.；德克萨斯州大学城）进行进一步分析。结果合格研究 (n=8) 包括从 2538 名 BD 患者和 2792 名健康对照获得的基因分型数据。在这三种突变中，总体分析发现 M694V（合并 OR：2.60，95% CI：2.02-3.34）和 M680I（合并 OR：1.74，95% CI：1.23-2.46）与 BD 相关。然而，第三个突变 E148Q 并未被发现与 BD 相关（合并 OR：1.26，95% CI：0.69-2.31）。亚组分析进一步显示，M694V 和 M680I 是 BD 的风险位点，特别是在土耳其患者中。结论荟萃分析证实 MEFV 突变 M694V 和 M680I 与 BD 相关。需要对其他种族人群进行额外的研究和功能实验来确定 MEFV 基因在多大程度上影响 BD 的发展。
ObjectiveSeveral studies have identified an association between Behcet'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.