Analysis of Association Between Genetic Heterogeneity of Interferon Beta Receptor Promoter and Therapeutic Response to Interferon-beta in a Patient with Multiple Sclerosis

Abstract Multiple sclerosis (MS) is an autoimmune disease characterized by inflammatory neuronal damages and consequent disabilities. Episodic relapses of the disease could be decreased by the interferon-beta (IFN-β) therapy in most MS patients. However, the drug response’s efficiency is variable among patients, and the precise mechanism of action of the IFN-β is not clear. This study aimed to investigate the interferon beta-receptor (IFNAR) promoter polymorphisms on response to interferon beta in MS patients. Patients were divided into either responding (n = 57) or non-responding (n = 43) groups according to interferon beta treatment and Expanded Disability Status Scale score. The Sanger sequencing method is used for genotyping. Here, we found a significant association between 65 SNP in responders and non-responders to interferon beta (p-value < 0.05). The results also showed a significant difference between the two groups of responders and non-responders to the treatment in the presence or absence of insertion before GT repeat dinucleotide microsatellite (p-value < 0.02). The present study’s obtained results suggested the genetic heterogeneity in the promoter region of IFNAR can affect response to IFN-β. However, more studies with a larger sample size are needed to demonstrate this relationship further.