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

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 (pvalue=
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 RRMS
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