Association between LAG-۳ (rs۱۹۹۲۲۴۵۲ G > C) polymorphism and immune thrombocythopenic purpura in Iranian population

Background and Aim: LAG-۳ regulates most of specific genes involved in multiple pathways signaling such as immune response, cell proliferation and oxidative stress. Biological normal functions of LAG-۳ are very important for immune response homeostasis. Recently, studies demonstrated that single LAG-۳ polymorphism can potentially affect the expression of multiple genes. The LAG-۳ (CD۲۲۳) is one of the most important immune check point which its dysfunction has been implicated in immune thrombocythopenic purpura (ITP) pathogenesis. This study aimed to investigate relation between rs۱۹۹۲۲۴۵۲ polymorphism with susceptibility of ITP in Iranian population.Methods: The study population consisted of ۱۵۰ ITP patients and ۱۳۰ age and gender matched healthy controls. We genotyped the polymorphism of LAG-۳ SNPs, LAG-۳ (rs۱۹۹۲۲۴۵۲ G > C) using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The genotypes and allele frequencies of was compared between patients and controls.Results: The rs۱۹۹۲۲۴۵۲ genotype was significantly higher in ITP patients than in controls (۱۶% vs. ۸%, p = ۰.۰۰). The results of binary logistic regression suggested that this genotype was significantly associated with ITP [odds ratio (OR)?=?۱.۹۲; ۹۵% confidence intervals (CIs)?=?۱.۲۳-۳.۲; p?=?۰.۰۲۱]. Moreover, subjects carrying the CC genotype had significantly higher values for inflammatory cytokine secretion and reduction inhibitory cytokine compared to GG and GC genotypes.Conclusion: Results from our study provides evidence that LAG-۳ rs۱۹۹۲۲۴۵۲ G > C polymorphism may influence susceptibility to ITP in Iranian population.

Keywords:

ITP , LAG-۳ , rs۱۹۹۲۲۴۵۲ , Inflammatory cytokine , Inhibitory cytokine.