Affiliations: [a] Faculty of Paramedicine, Research Center for Molecular Medicine, Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran | [b] Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran | [c] Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Shahid Labbafi Nejad Educational Hospital, Tehran, Iran | [d] Department of Neurology, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran | [e] Modeling of No communicable diseases Research center, Department of Biostatistics and Epidemiology, School of Public Health, Hamadan University of Medical Sciences, Hamadan, Iran | [f] GenoDive Pharma Inc., Atsugi, Japan
Correspondence:
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Corresponding author: Mohammad Taheri, Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, 8th Floor Kodakyar St, Velenjak, SBUMS Bldg, Evin, Tehran 198396-3113, Iran. Tel.: +98 21 77635431; Fax: +98 21 77635431; E-mail:[email protected]
Abstract: BACKGROUND: Although Multiple Sclerosis (MS) is an autoimmune
multifactorial disease with unknown etiology, various genetic and
environmental factors are known to contribute to the pathogenesis of the
disease. OBJECTIVE: Recent studies have confirmed that
the suppressive function of regulatory T cells (T (reg)) is impaired in MS
patients and that the FOXP3 gene is a crucial transcription factor in the
regulation of CD4+CD25+FOXP3+ Treg cells. Polymorphisms in
the promoter region of the FOXP3 gene may alter the gene expression level and,
therefore, contribute to the disease susceptibility. METHODS: The
present study aimed to investigate the possible association between single
nucleotide polymorphisms (SNPs) rs3761548 and rs2232365 in the FOXP3 gene and
predisposition to MS. We conducted a case-control study on 410 patients with
sporadic MS and 446 healthy controls. Genotyping was performed using
polymerase chain reaction-restriction fragment length polymorphism
(PCR-RFLP). RESULTS: Significant differences in distribution of
both rs3761548 and rs2232365 A allele were found in MS patients in
comparison to controls. Haplotype frequencies were also different among the
studied groups. The A-A and C-G haplotype blocks showed a significant
difference between case and controls. CONCLUSION: we have provided
further evidence for the association between genetic variations and
haplotypes in FOXP3 and MS in Iranian population.
Keywords: Multiple sclerosis, FOXP3, single nucleotide polymorphism, Iranian population
