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Association of macrophage migration inhibitory factor gene polymorphisms with Behçet's disease in a Han Chinese
Xiuyun Zheng1, Donglin Wang, Shengping Hou
1Jinan Mingshui Eye Hospital, Jinan, PR China.
Insights
Genetic variations in the macrophage migration inhibitory factor (MIF) gene, specifically SNPs rs755622 and rs2096525, are associated with Behçet's disease (BD) in Chinese individuals. Lower frequencies of certain alleles and genotypes were observed in BD patients, suggesting MIF's role in the disease.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Behçet's disease (BD) is a chronic inflammatory disorder of unknown etiology.
- The macrophage migration inhibitory factor (MIF) gene plays a crucial role in immune regulation and inflammation.
- Genetic variations in immune-related genes are potential contributors to BD pathogenesis.
Purpose of the Study:
- To investigate the association between specific polymorphisms in the macrophage migration inhibitory factor (MIF) gene and Behçet's disease (BD) in a Han Chinese population.
- To determine if single nucleotide polymorphisms (SNPs) rs755622 and rs2096525 in the MIF gene are risk factors for BD.
- To explore the relationship between MIF gene polymorphisms and clinical manifestations of BD.
Main Methods:
- A case-control study was conducted with 600 BD patients and 600 healthy controls.
- Two SNPs (rs755622 and rs2096525) in the MIF gene were genotyped using polymerase chain reaction (PCR) restriction fragment length polymorphism.
- Allele and genotype frequencies were compared between groups, and MIF mRNA expression was analyzed using real-time PCR.
Main Results:
- Significantly lower frequencies of the rs755622 GG genotype and G allele were observed in BD patients compared to controls.
- The TT genotype and T allele of SNP rs2096525 were also significantly less frequent in BD patients.
- Stratification analysis revealed decreased frequencies of these genotypes/alleles in various BD subgroups, including those with oral aphthae, genital ulceration, hypopyon, arthritis, and skin lesions.
- Individuals with the rs755622 CC genotype exhibited higher MIF mRNA expression compared to those with GC or GG genotypes.
Conclusions:
- The study establishes a significant association between MIF gene polymorphisms (rs755622 and rs2096525) and Behçet's disease in the Han Chinese population.
- These findings suggest that MIF may contribute to BD pathogenesis, potentially through the regulation of its mRNA expression.
- The identified SNPs could serve as potential genetic markers for BD susceptibility.
Objective:
To examine whether polymorphisms of the macrophage migration inhibitory factor (MIF) gene are associated with Behçet's disease (BD) in a Han Chinese population.
Design:
Case-control study.
Participants:
A total of 600 patients with BD and 600 age-, sex-, and ethnically matched healthy controls were enrolled.
Methods:
Two single nucleotide polymorphisms (SNPs), rs755622 and rs2096525, were genotyped using a polymerase chain reaction (PCR) restriction fragment length polymorphism assay. Allele and genotype frequencies were compared between patients and controls using the chi-square test. The expression of MIF was examined by real-time PCR.
Main Outcome Measures:
Association of SNPs in MIF with BD.
Results:
Significantly decreased frequencies of the rs755622 genotype GG and G allele were found in patients with BD compared with controls. The frequencies of the genotype TT and T allele of the SNP rs2096525 were significantly lower in patients with BD compared with controls. Stratification analysis showed that the frequencies of rs755622 genotype GG in the oral aphthae, genital ulceration, or hypopyon subgroups were significantly decreased compared with controls (all P(c) < 0.05). A significantly lower frequency of the G allele of rs755622 was observed in the oral aphthae, genital ulceration, hypopyon, and arthritis subgroups compared with controls (P(c) < 0.05). The frequencies of the rs2096525 genotype TT and T alleles were also decreased in the oral aphthae, genital ulceration, hypopyon, and skin lesion subgroups compared with the controls (P(c) < 0.01). The results also showed that the expression of MIF mRNA in individuals carrying the CC genotype of rs755622 was 1.78- and 1.92-fold higher than in those carrying the GC or GG genotype.
Conclusions:
This study identified a strong association of the 2 SNPs, rs755622 and rs2096525, in the MIF gene with BD and suggests that the involvement of MIF in BD may be through regulation of its mRNA expression.
Financial Disclosure(S):
The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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