• Investigation of rs9267649 genetic variant at HLA system in Iranian Patients with Multiple Sclerosis
  • Sevil Babashpour,1 Mitra Ataei,2 Shekoofe Alaie,3 Mohammad Hossein Sanati,4,*
    1. Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
    2. Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
    3. Scientific Committee, Iranian MS Society, Iran
    4. Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran


  • Introduction: Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system and one of the most common cause of neurologic disability among those aged 20-40 years, particularly in female. The genetic contribution to the susceptibility of developing MS is undeniable and the largest effect is located in the human leukocyte antigen (HLA) class II region, That this locus encodes molecules involved in presentation of peptide antigens to T cells by antigen presenting cells (APCs) and HLA-DRB1*15:01 allele confers a 3-fold increased risk of developing MS. HLA gene variant, rs9267649, has shown association with increased DNA methylation at the HLA- DRB1 and reduced expression of this gene and modulation of the DRB1*15:01 effect.
  • Methods: In this case-control study, after DNA extraction, genotyping of rs9267649 (A>G) was performed with the PCR-RFLP method in Iranian blood samples(82 cases and 100 controls). The primers were designed by Oligo7 software and The 400 bp PCR-generated amplicons were checked by electrophoresis on 1.5% agarose gel. Restriction enzyme RsaI served for the amplicons digestion. RsaI recognizes the G allele of the rs9267649 variant and cut to generate two fragments which segregate after electrophoresis on 2.5% agarose gel. Four randomly selected samples were subjected to regenotyping through DNA sequencing. Data were analyzed using the SPSS software24.
  • Results: We found statistically significant differences in the distribution of rs9267649 genetic variant at HLA system between patients and controls in Iranian population.
  • Conclusion: The results of this study suggest that HLA gene variant, rs9267649, might be associated with the risk of Multiple Sclerosis in Iranian popolation.
  • Keywords: Multiple Sclerosis, rs9267649 genetic variant, HLA system, PCR-RFLP