ASSOCIATION STUDY OF STAT4, IL7R, AND FOXP1 GENE POLYMORPHISMS WITH MULTIPLE SCLEROSIS IN THE NORTHWEST OF IRAN

Multiple sclerosis (MS) (MIM # 126200) is a chronic inflammatory demyelinating disorder of the central nervous system (CNS) that is recognized as the most common cause of non-traumatic neurological disability in young adults. The aim of this study was to evaluate the association between rs9828628 (FOXP1 gene), rs6881706 (IL7R gene), rs9967792 (STAT4 gene) with relapsing-remitting MS (RRMS).

The case-control study included 129 cases with RRMS and 200 healthy individuals. ARMS-PCR technique was performed for genotyping rs9828628, rs6881706, rs9967792. Chi-square, Fisherchr('39')s exact test, and allelic and genotypic regression analysis were used to investigate the association of these polymorphisms with RRMS.

Considering the total population studied a significant association was observed between rs6881706 and RRMS with OR = 2.522 and 95% CI = 1.336 – 4.759 and p-value = 0.004. The association of this polymorphism with RRMS did not change after using Bonferroni correction (p =0.0169). No association was observed between rs9828628 and rs9967792 with RRMS.

The current study replicated three polymorphisms of GWAS susceptibility SNPs in the Northwest of Iran. There was a significant association between rs6881706 and RRMS, while no association was observed between rs9967792, rs9828629, and RRMS.
 The importance of validated polymorphisms is essential to understand the signaling pathways in RRMS and to use them as a genetic biomarker in diagnosing and screening the disease and establishing a new drug target.