Rigante D, Flex A, Federico G, Pola R, Candelli M, Manna R, Pugliese A L, Cerquaglia C, Compagnone A, Stabile A
Department of Paediatric Sciences, Catholic University of Sacred Heart, Rome, Italy.
Scand J Rheumatol. 2007 Jul-Aug;36(4):307-10. doi: 10.1080/03009740701218816.
To examine the association of the -173 single-nucleotide G/C polymorphism of the macrophage migration inhibitory factor gene (MIF) and serum macrophage migration inhibitory factor (MIF) concentrations in a group of Italian patients with hereditary periodic fevers (HPF), tested during a symptom-free phase of their disease.
Genomic DNA for MIF and serum MIF were evaluated in 22 patients with HPF and compared with healthy controls of the same ethnic group. The MIF-173G/C polymorphism was genotyped using polymerase chain reaction (PCR) and visualized by ethidium bromide staining. Serum MIF levels were measured by enzyme-linked immunosorbent assay (ELISA).
MIF-173*C allele frequency and MIF serum concentrations were significantly higher in patients with HPF than in controls, with no statistically significant difference between familial Mediterranean fever (FMF) and hyperimmunoglobulinaemia D/periodic fever syndrome (HIDS) and no correlation with specific MIF genotypes.
The MIF-173*C allele was found more frequently in patients with HPF than in controls and MIF serum concentrations were considerably elevated in attack-free phases, suggesting a persistent state of subclinical cytokine activation with MIF involvement in the autoinflammatory cascade.
在一组意大利遗传性周期性发热（HPF）患者疾病无症状期进行检测，以研究巨噬细胞移动抑制因子基因（MIF）-173单核苷酸G/C多态性与血清巨噬细胞移动抑制因子（MIF）浓度之间的关联。
对22例HPF患者的MIF基因组DNA和血清MIF进行评估，并与同种族健康对照进行比较。采用聚合酶链反应（PCR）对MIF - 173G/C多态性进行基因分型，并用溴化乙锭染色进行可视化。通过酶联免疫吸附测定（ELISA）测量血清MIF水平。
HPF患者的MIF - 173*C等位基因频率和MIF血清浓度显著高于对照组，家族性地中海热（FMF）和高免疫球蛋白血症D/周期性发热综合征（HIDS）之间无统计学显著差异，且与特定MIF基因型无相关性。
HPF患者中MIF - 173*C等位基因的出现频率高于对照组，且在无发作期MIF血清浓度显著升高，提示存在MIF参与自身炎症级联反应的亚临床细胞因子持续激活状态。
