Abstract:
Background:
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 Th1-mediated autoimmune or inflammatory diseases, such as Behçet disease.
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. Typing of the polymorphisms was performed using multiplex PCR amplification.
Results:
There were no significant differences in allele and genotype frequencies between the Behçet 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.
Keywords:
Autoimmunity; Behçet syndrome; Polymorphism, single nucleotide