The protective role of TBX21-1514T>C polymorphism in susceptibility to multiple sclerosis

  • Fatemeh Akbarian Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran Department of Biology, School of Basic Sciences, University of Guilan, Rasht, Iran
  • Mitra Ataei Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
  • Zivar Salehi Department of Biology, School of Basic Sciences, University of Guilan, Rasht, Iran
  • Masoud Nabavi Department of Neurology and Neuroregenerative, Royan Institute, Tehran, Iran
  • Mohammad Hossein Sanati Mail Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
Multiple Sclerosis, Genetic Polymorphism, T-bet Transcription Factor Gene, Interferon-Gamma×


Background: As a T-cell mediated disease, multiple sclerosis (MS) pathogenesis might be associated with the immune system and its involved genes. TBX21, which encodes T-bet transcription factor, is a critical regulator of the commitment to the Th1 lineage and Interferon gamma (IFNγ) production. Investigation of the association of -1514T > C polymorphism located upstream of TBX21 gene with MS susceptibility is reasonable due to its demonstrated significant association with some other immune-mediated diseases.

Methods: We analyzed the genotype frequencies of -1514T > C polymorphism between 248 Iranian patients with MS and 163 matched healthy controls. By applying polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)- technique, the single-strand conformation patterns of the amplicons were compared and sequenced.

Results: Strong association between the wild -1514T allele and MS susceptibility was found with the allelic frequency of 99.6% in patients vs. 95.1% in controls (P = 0.002), and the CC genotype frequency of the TBX21 polymorphism (-1514T > C) reported potential protective effect against the disease (P = 0.014).

Conclusion: The TBX21-1514T > C polymorphism confers possible protective effect on MS in Iranian population. Further comprehensive studies in different settings are required to clarify the exact role of TBX21 gene in MS disease.


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How to Cite
Akbarian F, Ataei M, Salehi Z, Nabavi M, Sanati MH. The protective role of TBX21-1514T>C polymorphism in susceptibility to multiple sclerosis. Curr J Neurol. 17(3):111-116.
Original Article(s)