INTEGRIN SUBUNIT ALPHA 4 (ITGA4) VARIANT IS ASSOCIATED WITH RELAPSING-REMITTING MULTIPLE SCLEROSIS IN AN IRANIAN POPULATION

MOHAMMAD TAHERI^{1, 2,} REZVAN NOROOZI³, AREZOU SAYAD¹, SOUDEH GHAFOURI-FARD^1*, MIR DAVOOD OMRANI^1*

¹Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran - ²Urogenital Stem Cell Research, Shahid Beheshti Universiti of Medical Sciences, Tehran, Iran - ³Phytochemistry Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Introduction: Multiple sclerosis (MS) is an inflammatory demyelinating disorder of central nervous system (CNS). As a multi- factorial disorder, several genetics and environmental factors contribute in its pathogenesis. Among them are genetic variants in the integrin subunit alpha 4 (ITGA4) gene. The encoded protein has been shown to assist in migration of leukocytes across the blood brain barrier participating in the pathogenesis of neuroinflammatory disorders.

Materials and methods: The current case-control association study enrolled 410 unrelated MS patients and 477 healthy mat- ched controls. The rs1143676 within ITGA4 gene, which leads to an arginine to glutamine transversion, was genotyped in all study participants using tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR).

Results: The rs1143676 polymorphism showed significant differences in allele and genotype frequencies between the MS patients and healthy subjects. In addition, genotypes were risk associated in dominant and codominant models.

Conclusion: The rs1143676 polymorphism is associated with MS risk in Iranian population. Future studies are needed to eva- luate its significance in MS pathogenesis in other populations. These results are in agreement with the supposed biological role of ITGA4 in immune cell trafficking in the CNS.