Abstract
AbstractBackground: Behçet disease is a prototypical systemic autoimmune disease, caused by a complex interplay between environmental and genetic factors. The transmembrane immunoglobulin and mucin domain-3 (TIM-3) is a distinct member of the TIM family that is preferentially expressed on Th1 cells and plays a role in Thl-mediated autoimmune or inflammatory diseases, such as Behçet disease.Objectives: The aim of this study was to test the potential association between TIM-3 gene polymorphisms and Behçet disease.Methods: Two single-nucleotide polymorphisms of TIM-3 (rs9313439 and rs10515746) were genotyped in 212 patients with Behcet disease and 200 healthy controls. Typing of the polymorphisms was performed using multiplex PCR amplification.Results: There were no significant differences in allele and genotype frequencies between the Behcet disease patients and controls who were successfully genotyped. Similar results were also found after stratification by gender, age, or clinical features.Study limitations: Lack of studies on various racial or ethnic groups and small sample size.Conclusion: This study failed to demonstrate any association between the tested TIM-3 polymorphisms and Behçet disease.
Highlights
T cells play an important role in the pathogenesis and progression of BD, which is characterized by recurrent oral and genital aphthous ulcers, uveitis, and skin lesions.[1]
In total, 212 BD patients and 200 healthy controls were genotyped for the rs10515746 and rs9313439 single-nucleotide polymorphisms (SNPs)
The allele and genotype frequencies for these SNPs are indicated in table 3
Summary
T cells play an important role in the pathogenesis and progression of BD, which is characterized by recurrent oral and genital aphthous ulcers, uveitis, and skin lesions.[1]. Since BD has been predominantly attributed to be a Th1-driven autoimmune disorder, it seems reasonable to think that variability within Th1 cell-mediated immune response genes may influence disease susceptibility or severity.[6] some efforts have been made to address this issue and the results have revealed numerous genetic associations between specific single-nucleotide polymorphisms (SNPs) in Th1 related cytokine genes and disease risk.[7,8,9]. Objective: The aim of this study was to test the potential association between TIM-3 gene polymorphisms and Behçet disease. Methods: Two single-nucleotide polymorphisms of TIM-3 (rs9313439 and rs10515746) were genotyped in 212 patients with Behçet disease and 200 healthy controls. Conclusion: This study failed to demonstrate any association between the tested TIM-3 polymorphisms and Behçet disease.
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