Avicenna J Med Biotech arij002 Avicenna Journal of Medical Biotechnology 2008-2835 2008-4625 Avicenna Research Institute ajmb310 Association of <i>AIRE</i> Polymorphism and the Susceptibility to Multiple Sclerosis in Iranian Population Sadeghian-RiziTaherehResearch Center for Applied Biology, Mashhad Branch, Islamic Azad University, Mashhad, IranAlsahebfosoulFereshtehResearch Center for Applied Biology, Mashhad Branch, Islamic Azad University, Mashhad, IranKazemiMohammadGenetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranKhanahmadHosseinMonoclonal Antibody Research Center, Avicenna Research Institute, ACECR, Tehran, IranJahanian NajafabadiAliGRD Institute of Management and Technology, Dehradun, India 10 2 110 114 4 2 2017 19 4 2017

<p>Background: Multiple Sclerosis (MS) is the most common cause of neurologic disability in young adults. Recently, the <em>AIRE</em> gene was identified as a genetic risk factor for several autoimmune diseases in genome wide association studies. The aim of this study was to further investigate the possible role of the <em>AIRE</em> gene in susceptibility to MS in Iranian population.<br /> Methods: A total of 112 MS patients and 94 ethnically matched controls were included in the study. The Single-Nucleotide Polymorphism (SNP) (rs1800520, C&gt;G) with a global MAF=0.2282/1143 was selected and genotyped using HRM real-time PCR method.<br /> Results: Results showed that <em>AIRE</em> SNP rs1800520 was significantly less common in the MS patients than in healthy controls (17.8 <em>vs.</em> 28.7%, pc=0.032, OR=0.54,95% CI 0.279,1.042). Also, the frequency of allele G was significantly higher among the control group than in the case group (37.77 <em>vs.</em> 25%, pc=0.014). Interestingly, mRNA transcribed on the rs1800520 SNP showed decreased free energy than the wild type suggesting that its increased stability may be responsible for the different activities of the polymorphic AIRE molecule.&nbsp;<br /> Conclusions: This is the first study investigating the relationship between <em>AIRE</em> gene and the susceptibility to MS. These results indicated that the rs1800520 SNP is not a susceptibility gene variant for the development of MS in Iranian population.</p>