Abstract：
Several studies have suggested that mutations in MEFV, the gene responsible for familial Mediterranean fever (FMF), are frequently detected in inflammatory bowel disease (IBD) patients. We aimed to provide further evidence regarding a potential correlation between MEFV gene mutations and IBD by identifying all relevant studies and analyzing their results.
EMBASE, PubMed/MEDLINE, and Google Scholar were used to identify all studies that published until January 2021 and reported MEFV mutation patterns in patients with ulcerative colitis (UC), Crohn\'s disease (CD) and indeterminate colitis (IC) with or without a control group. The Newcastle-Ottawa quality assessment scale was used to appraise the quality of the included studies.
Thirteen observational studies, including 937 patients and 977 controls, were analyzed. MEFV mutation rate in IBD patients was 0.238 (95%CI: 0.209-0.270; I 2 =95%); MEFV mutated alleles were more frequent in IBD patients when compared with controls (p=0.03 for UC, p=0.01 for CD and IC). Subgroup analysis indicated that MEFV mutations were increased in patients with IC when compared with UC and CD (I 2 =91%, p<0.001). Patients with extra-intestinal manifestations and pancolitis had 2.57 (95%CI 1.07-6.14; p=0.03) and 2.02 (95%CI: 1.01-4.04, P=0.049) odds ratios to carry MEFV mutant genotypes, respectively. Exon 10 mutations had the most serious impact. No source of heterogeneity was detected.
MEFV mutations are common in IBD and are linked with the presence of extra-intestinal manifestations and pancolitis. Further research to assess the clinical significance and evolutionary significance of MEFV mutations in IBD patients is warranted.
EMBASE, PubMed/MEDLINE, and Google Scholar were used to identify all studies that published until January 2021 and reported MEFV mutation patterns in patients with ulcerative colitis (UC), Crohn\'s disease (CD) and indeterminate colitis (IC) with or without a control group. The Newcastle-Ottawa quality assessment scale was used to appraise the quality of the included studies.
Thirteen observational studies, including 937 patients and 977 controls, were analyzed. MEFV mutation rate in IBD patients was 0.238 (95%CI: 0.209-0.270; I 2 =95%); MEFV mutated alleles were more frequent in IBD patients when compared with controls (p=0.03 for UC, p=0.01 for CD and IC). Subgroup analysis indicated that MEFV mutations were increased in patients with IC when compared with UC and CD (I 2 =91%, p<0.001). Patients with extra-intestinal manifestations and pancolitis had 2.57 (95%CI 1.07-6.14; p=0.03) and 2.02 (95%CI: 1.01-4.04, P=0.049) odds ratios to carry MEFV mutant genotypes, respectively. Exon 10 mutations had the most serious impact. No source of heterogeneity was detected.
MEFV mutations are common in IBD and are linked with the presence of extra-intestinal manifestations and pancolitis. Further research to assess the clinical significance and evolutionary significance of MEFV mutations in IBD patients is warranted.
摘要：
几项研究表明，MEFV的突变，负责家族性地中海热（FMF）的基因，在炎症性肠病（IBD）患者中经常检测到。我们旨在通过确定所有相关研究并分析其结果，提供有关MEFV基因突变与IBD之间潜在相关性的进一步证据。
EMBASE,PubMed/MEDLINE,和谷歌学者被用来确定所有发表到2021年1月的研究，并报告了溃疡性结肠炎（UC）患者的MEFV突变模式，克罗恩病（CD）和不确定结肠炎（IC），有或没有对照组。采用纽卡斯尔-渥太华质量评价量表对纳入研究的质量进行评价。
13项观察性研究,包括937名患者和977名对照,进行了分析。IBD患者的MEFV突变率为0.238（95CI：0.209-0.270；I2=95％）；与对照组相比，IBD患者中MEFV突变的等位基因频率更高（UC的p=0.03，CD和IC的p=0.01)。亚组分析表明，与UC和CD相比，IC患者的MEFV突变增加（I2=91％，p<0.001)。具有肠外表现和全结肠炎的患者携带MEFV突变基因型的比值比为2.57（95CI1.07-6.14;p=0.03）和2.02（95CI：1.01-4.04，P=0.049），分别。外显子10的突变影响最为严重。未检测到异质性来源。
MEFV突变在IBD中很常见，并且与肠外表现和全结肠炎的存在有关。有必要进一步研究以评估IBD患者MEFV突变的临床意义和进化意义。
EMBASE,PubMed/MEDLINE,和谷歌学者被用来确定所有发表到2021年1月的研究，并报告了溃疡性结肠炎（UC）患者的MEFV突变模式，克罗恩病（CD）和不确定结肠炎（IC），有或没有对照组。采用纽卡斯尔-渥太华质量评价量表对纳入研究的质量进行评价。
13项观察性研究,包括937名患者和977名对照,进行了分析。IBD患者的MEFV突变率为0.238（95CI：0.209-0.270；I2=95％）；与对照组相比，IBD患者中MEFV突变的等位基因频率更高（UC的p=0.03，CD和IC的p=0.01)。亚组分析表明，与UC和CD相比，IC患者的MEFV突变增加（I2=91％，p<0.001)。具有肠外表现和全结肠炎的患者携带MEFV突变基因型的比值比为2.57（95CI1.07-6.14;p=0.03）和2.02（95CI：1.01-4.04，P=0.049），分别。外显子10的突变影响最为严重。未检测到异质性来源。
MEFV突变在IBD中很常见，并且与肠外表现和全结肠炎的存在有关。有必要进一步研究以评估IBD患者MEFV突变的临床意义和进化意义。
