Department of Internal Medicine, Division of Rheumatolgy, Medical Faculty, Kocaeli University, Kocaeli, Turkey.
Rheumatol Int. 2012 Oct;32(10):3025-30. doi: 10.1007/s00296-011-2011-y. Epub 2011 Sep 8.
Investigation of the relation between MEFV gene mutations and clinical findings of Behçet's disease. Genetic features of 100 patients with Behçet's disease (BD) and 100 healthy controls were analyzed. None of the individuals had a family history of FMF in the patient and control group, and none of the individuals in the control group had a family history of BD. MEFV gene analysis was performed in all the patients with BD and healthy controls; twelve different regions were scanned. In the BD group, mutations were detected in more than one region in 27 patients (27%). Twenty-five patients had heterozygous and two patients had compound heterozygous mutations (M680I-V726A and M694 V-A744S). The most frequent mutation was M694 V with an allelic frequency of 5%. The allelic frequencies of E148Q, M680I (G/C), and V726A were 3, 2, and 2%, respectively. The allelic frequencies of P369S, A744S, and K695R were 1, 1, and 0.5%. MEFV gene analysis revealed mutations in 27 (27%) of the individuals in the control group; the allelic frequency was 14%. The most frequent mutation was E148Q that was detected in 16 individuals. One individual was compound heterozygote (E148Q-M694 V). The allelic frequencies of E148Q, M694 V, V726A, and M680I were 8, 3, 1.5, and 0.5%, respectively. The allelic frequencies of K695R and P369S were 0.5 and 0.5%, respectively. The allelic frequency was similar in the two groups. There was not a significant relation between the mutations in the BD group and clinical findings.
探讨 MEFV 基因突变与白塞病临床特征的关系。分析 100 例白塞病（BD）患者和 100 例健康对照者的遗传特征。患者和对照组均无家族性纤维肌痛综合征病史，对照组也无家族性 BD 病史。对所有 BD 患者和健康对照者进行 MEFV 基因分析；扫描了 12 个不同区域。BD 组中，27 例（27%）患者多个区域存在突变。25 例为杂合突变，2 例为复合杂合突变（M680I-V726A 和 M694 V-A744S）。最常见的突变为 M694 V，等位基因频率为 5%。E148Q、M680I（G/C）和 V726A 的等位基因频率分别为 3%、2%和 2%。P369S、A744S 和 K695R 的等位基因频率分别为 1%、1%和 0.5%。对照组中 27 例（27%）个体存在 MEFV 基因突变，等位基因频率为 14%。最常见的突变为 E148Q，共 16 例。1 例为复合杂合子（E148Q-M694 V）。E148Q、M694 V、V726A 和 M680I 的等位基因频率分别为 8%、3%、1.5%和 0.5%。K695R 和 P369S 的等位基因频率分别为 0.5%和 0.5%。两组的等位基因频率相似。BD 组的突变与临床特征之间无显著关系。
