ASSOCIATION STUDY OF CASITAS B-LINEAGE LYMPHOMA PROTO-ONCOGENE B (CBLB) GENE VARIANT AND MULTIPLE SCLEROSIS

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 University of Medical Sciences, Tehran, Iran - ³Phytochemistry Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Introduction: Multiple sclerosis is a complex inflammatory demyelinating disorder of central nervous system (CNS). Several genetic loci have been shown to be linked with this disorder. Among them is the Casitas B-lineage lymphoma proto-oncogene b (CBLB) gene whose protein product participates as a negative regulator of adaptive immune responses. In the current study we aimed at evaluation of the association between the rs12487066 single nucleotide polymorphism (SNP) within CBLB gene and MS in a population of Iranian patients.

Materials and methods: We designed a case-control association study registering 410 unrelated patients with sporadic MS and 428 healthy matched controls. Genotyping of rs12487066 was performed using tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR).

Results: No statistically significant difference was observed in allele and genotype frequencies between the MS patients and healthy subjects.

Conclusion: Although the rs12487066 SNP has been shown to be associated with MS in other populations, our study suggest that this SNP is not linked with MS in Iranian population.