title: Single nucleotide polymorphisms in the FOXP3 gene are associated with increased risk of relapsing-remitting multiple sclerosis.
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.
  
  
  CONCLUSIONS
  we have provided further evidence for the association between genetic variations and haplotypes in FOXP3 and MS in Iranian population.
authors: Faculty of Paramedicine, Research Center for Molecular Medicine, Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.
authors: Mohammad Mahdi
authors: MM
authors: Eftekharian
authors: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Arezou
authors: A
authors: Sayad
authors: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.|Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Shahid Labbafi Nejad Educational Hospital, Tehran, Iran.
authors: Mir Davood
authors: MD
authors: Omrani
authors: Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Shahid Labbafi Nejad Educational Hospital, Tehran, Iran.
authors: Masoud Sabouri
authors: MS
authors: Ghannad
authors: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Rezvan
authors: R
authors: Noroozi
authors: Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Shahid Labbafi Nejad Educational Hospital, Tehran, Iran.
authors: Mehrdokht
authors: M
authors: Mazdeh
authors: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Reza
authors: R
authors: Mirfakhraie
authors: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Abolfazl
authors: A
authors: Movafagh
authors: Department of Neurology, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.
authors: Ghodratollah
authors: G
authors: Roshanaei
authors: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Tahereh
authors: T
authors: Azimi
authors: Modeling of No communicable diseases Research center, Department of Biostatistics and Epidemiology, School of Public Health, Hamadan University of Medical Sciences, Hamadan, Iran.
authors: Hidetoshi
authors: H
authors: Inoko
authors: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.|Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Shahid Labbafi Nejad Educational Hospital, Tehran, Iran.
authors: Mohammad
authors: M
authors: Taheri
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics* / Q000276:immunology; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012306:Risk; D050378:T-Lymphocytes, Regulatory / Q000276:immunology* / Q000473:pathology
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors
keywords: FOXP3; Iranian population; Multiple sclerosis; single nucleotide polymorphism