Sánchez E, Gómez L M, Lopez-Nevot M A, González-Gay M A, Sabio J M, Ortego-Centeno N, de Ramón E, Anaya J M, González-Escribano M F, Koeleman B P, Martín J
Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain.
Genes Immun. 2006 Jul;7(5):433-6. doi: 10.1038/sj.gene.6364310. Epub 2006 May 18.
The aim of this study was to evaluate the potential association of functional polymorphisms of macrophage migration inhibitory factor with systemic lupus erythematosus. Our study includes 711 systemic lupus erythematosus (SLE) patients and 755 healthy controls. We genotyped the migration inhibitory factor (MIF) -173G/C using a polymerase chain reaction (PCR) system with predeveloped TaqMan allelic discrimination assay and the MIF -794 CATT(n) microsatellite polymorphism using a PCR-fluorescent method. A statistically significant difference in the distribution of the MIF -173()C allele between SLE patients and controls (P=0.004, OR=1.34, 95% CI=1.05-1.27) was observed. In addition, the frequency of the MIF -173()C/C genotype was higher in SLE patient (P=0.002, OR=2.58, 95% CI=1.32-5.10). No differences in the distribution of CATT(n) were found. However, the haplotypes analyses showed that only the CATT(7)-MIF -173()C haplotype was associated with a higher susceptibility to SLE (P=0.001, OR 1.84, 95% CI 1.35-2.79). No association with clinical features was detected in any case. These results suggest that both, MIF -173()C allele and CATT(7)-MIF -173(*)C haplotype, confer susceptibility to SLE in our population.
本研究的目的是评估巨噬细胞移动抑制因子功能多态性与系统性红斑狼疮之间的潜在关联。我们的研究纳入了711例系统性红斑狼疮（SLE）患者和755例健康对照。我们使用预开发的TaqMan等位基因鉴别分析的聚合酶链反应（PCR）系统对移动抑制因子（MIF）-173G/C进行基因分型，并使用PCR荧光法对MIF -794 CATT(n)微卫星多态性进行基因分型。观察到SLE患者和对照之间MIF -173()C等位基因分布存在统计学显著差异（P = 0.004，OR = 1.34，95% CI = 1.05 - 1.27）。此外，SLE患者中MIF -173()C/C基因型的频率更高（P = 0.002，OR = 2.58，95% CI = 1.32 - 5.10）。未发现CATT(n)分布存在差异。然而，单倍型分析显示，只有CATT(7)-MIF -173()C单倍型与SLE易感性较高相关（P = 0.001，OR 1.84，95% CI 1.35 - 2.79）。在任何情况下均未检测到与临床特征的关联。这些结果表明，MIF -173()C等位基因和CATT(7)-MIF -173(*)C单倍型在我们的人群中均赋予SLE易感性。
