Author/Authors :
Akhavan-Niaki, Haleh Department of Genetics - Faculty of Medicine - Babol University of Medical Sciences - Babol, Iran , Asouri, Mohsen Department of Molecular Medicine - Biotechnology Research Center - Pasteur Institute of Iran - Tehran, Iran , Mahboudi , Fereidoun Department of Molecular Medicine - Biotechnology Research Center - Pasteur Institute of Iran - Tehran, Iran , Karimpoor, Morteza Department of Molecular Medicine - Biotechnology Research Center - Pasteur Institute of Iran - Tehran, Iran , Alinejad Rokni, Hamid Systems Biology and Health Data Analytics Lab - the Graduate School of Biomedical Engineering - UNSW Sydney - 2052 - NSW, AU , Sahraian, Mohammad Ali Multiple Sclerosis Research Center - Neuroscience Institute - Tehran University of Medical Sciences - Tehran, Iran , Fattahi, Sadegh North Research Center - Pasteur Institute of Iran - Amol, Iran , Amirbozorgi, Galia North Research Center - Pasteur Institute of Iran - Amol, Iran , Motamed, Nima Department of Social Medicine - Zanjan University of Medical Sciences - Zanjan, Iran , Doosti, Rozita Multiple Sclerosis Research Center - Neuroscience Institute - Tehran University of Medical Sciences - Tehran, Iran
Abstract :
Multiple sclerosis (MS) is a multifactorial condition in which many genetic and environmental
factors interfere. The association between genes involved in the immune system and MS was previously
reported. The aims of this study were to evaluate 14 SNPs of HLA-DRA, 14 SNPs of IL2RA with severity of
MS through Expanded Disability Status Scale (EDSS) and Annualized Relapse Rate (ARR).
Methods: 102 patients with MS referred to Sina hospital in Tehran, Iran, were diagnosed and studied based
on McDonald’s guideline, clinical signs, and brain imaging procedures. All patients were included in the
study following informed consent. Genotyping study of 14 variants in the HLA-DRA, and 14 variants in
IL2RA was conducted by Sanger sequencing. Disease outcomes including EDSS and ARR were registered.
Outcome measures between different genotypes of each SNPs were compared separately.
Results: Among 14 SNPs in IL 2RA the genotypes of rs12722489 showed a significant association with ARR in
two consecutive years. Mean ARR1 was 1.06±1.12, 0.20±0.34 and 0.31±.50 for AA, GA, and GG genotypes,
respectively (p value= 0.008). Mean ARR2 was 1.5±1.08, 0.28±0.40, and 0.42±0.55 for AA, GA, and GG,
respectively (p value= 0.001). Regression analysis showed a significant association between rs12722489 with
ARR1 and ARR2, removing the potential confounding mediators. No significant association was found between
SNPs in HLA-DRA with the attack rate and severity of MS.
Conclusions: The rs12722489 of IL-2RA has an association with ARR, but not with EDSS.
Keywords :
Multiple Sclerosis , HLA - SNP , Expanded Disability Status Scale , Annualized Relapse Rate