Multiple sclerosis (MS) is an autoimmune disease characterized by inflammatory neuronal damages and consequent disabilities. Episodic relapses of the disease which lead to brain lesions and irreversible neurological dysfunctions could be decreased by the interferon-beta (IFN-β) therapy in most of the MS patients. However, the efficiency of the drug response is highly variable among patients and the precise mechanism of action of the IFN-β is not clear. To investigate the role of RORA gene as a biomarker of patient’s responsiveness, the present study have analyzed the frequency of two polymorphisms (rs4774388 and rs11639084) within this gene between responder (n = 105) and nonresponder (n = 65) groups of MS patients in comparison with 200 healthy controls. The tetra primers-Amplification Refractory Mutation System-PCR method was used for genotyping. The obtained result of the current study showed a significant association between nonresponsiveness and the rs4774388 in dominant model (p = 0.03). However, the allele and genotype frequencies of rs11639084 were not different between controls, nonresponder, and responder patients. In addition, the frequencies of the estimated haplotype blocks were not different between examined groups. The obtained results of the present study suggested the rs4774388 as a possible effective factor in determination of response to IFN-β. However, further studies are needed to confirm the results in a larger sample size.

多发性硬化症（MS）是一种自身免疫性疾病，其特征在于炎症性神经元损害和随之而来的残疾。在大多数MS患者中，干扰素-β（IFN-β）疗法可减少导致脑部病变和不可逆神经功能障碍的疾病的复发发作。但是，患者之间药物反应的效率差异很大，而且IFN-β的确切作用机理尚不清楚。为了研究RORA基因作为患者反应能力的生物标志物的作用，本研究分析了该基因内两个基因多态性（rs4774388和rs11639084）在反应者（n  = 105）和无反应者（n = 65）MS患者组与200名健康对照组相比。使用四引物-扩增难治性突变系统-PCR方法进行基因分型。当前研究的结果表明，显性模型中无反应性与rs4774388之间存在显着相关性（p  = 0.03）。但是，rs11639084的等位基因和基因型频率在对照组，无反应者和有反应者之间没有差异。另外，在检查的组之间，估计的单倍型基因组的频率没有差异。本研究获得的结果表明，rs4774388是确定对IFN-β反应的一种可能的有效因素。但是，需要进一步的研究来确认更大样本量的结果。