STUDY OF ASSOCIATION BETWEEN SUSCEPTIBLE VARIANTS IN GENES WITH VITAMIN D RESPONSE ELEMENTS AND THE RISK OF RELAPSING-REMITTING MULTIPLE-SCLEROSIS IN IRANIAN AZERI POPULATION

Abstract

Background & Aims: Multiple sclerosis (MS) (MIM #126200) is a chronic, inflammatory, demyelinating disorder of the central nervous system (CNS) that is the most common reason for non-traumatic neurological defects among young people. The aim of this study was to evaluate the association between single-nucleotide polymorphisms (SNPs) in genes with vitamin D response elements (VDREs) in their regulatory regions and the risk of relapsing-remitting multiple sclerosis (RR-MS) in the Iranian Azeri population. Materials & Methods: A total of 129RR-MS cases and 200 normal controls from West Azerbaijan were recruited in this study. We genotyped the fourteen MS susceptible variants in genes with vitamin D response elements that emerged from previous genome-wide association studies (GWAS), using Tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR) assay in every participant. Chi-square, Fisher's exact test, and allelic and genotypic regression analysis were used to investigate the association of these polymorphisms with RRMS. Results: Three polymorphisms showed significant association (p-value < 0.05) with RR-MS. In particular, rs4410871 of PVT1 (p-value= 0.035, TT vs CC OR[95%CI]= 2.775 (1.253-6.146)), rs212405 of TAGAP (p-value=0.016, AA vs TT OR[95%CI]= 2.463 (1.255-4.835)), and rs7090512 of IL2RA (p-value= 0.008, CC vs TT OR[95%CI]= 2.865 (1.433-5.731) ) were identified as susceptible risk factors in our group. Conclusion: The current study replicated fourteen susceptible variants in genes with vitamin D response elements and the risk of RR-MS in the Iranian Azeri population, which implies the existence of some similarities between the MS genetic structure of the GWAS populations and the studied Iranian Azeri population.