Non-significant influence of macrophage migration inhibitory factor (MIF) promoter gene polymorphisms on the risk or activity of Egyptian Behçet's disease patients: Potential role of MIF+254T/C in posterior uveitis

- Genomic DNA was extracted from lymphocytes by the use of standard techniques.
- To analyze the −173G/C genotype and +254T/C genotype of MIF, sequence amplification was performed using PCR followed by restriction fragment length polymorphism.
- A relation between TC genotype and clinical presentation of BD was detected.
- The genetic variant of the MIF+254T/C promoter gene among Egyptian BD patients showed a significant relation with posterior uveitis in the studied patients.

Aim of the workTo evaluate the potential relationship between functional polymorphisms of macrophage migration inhibitory factor (MIF) promoter and Behcet's disease (BD) in a cohort of Egyptian patients.Patients and methodsOne-hundred BD patients, 84 males and 16 females; mean age 34.16 ± 9.59 years and disease duration 6.71 ± 5.31 years, and 100 age and sex matched controls were enrolled in this study. Two MIF single nucleotide polymorphisms (SNPs); rs755622(−173G/C) and rs2096525(+254T/C) were genotyped using polymerase chain reaction-restriction fragment length polymorphism assay. Disease activity was assessed using the BD current activity form.ResultsNo significant difference in the distributions of alleles and genotypes was observed between patients and controls. Mutant allele C in the −173G/C SNP was present in 28% and in the +254T/C SNP in 16% of the BD patients. Dual mutation of the two SNPs was non-significant (p = 0.53) between patients (14%) and control (8%). The CC mutant genotypes were absent in both SNPs. No significant difference was noticed between the wild and mutant genotypes regarding oral ulcers, genital ulcers, skin manifestations, pathergy test and vascular involvement or regarding the disease activity. Nevertheless, posterior uveitis was significantly higher among patients with mutant (87.5%) than those with wild genotype (33.3%) of the rs2096525 SNP (p = 0.007).ConclusionNeither MIF gene rs755622 nor rs2096525 SNPs are implicated in the genetic susceptibility to BD among Egyptian patients. No correlation was found between −173G/C SNP and clinical manifestations or disease activity. A strong significant association between the +254T/C SNP and posterior uveitis was detected among BD patients.