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A Single Nucleotide Polymorphism in the Foxp3 Gene Associated Wit] Behcet's Disease in an Iranian Population Publisher Pubmed



Hosseini A1, 2 ; Shanehbandi D3 ; Estiar MA4 ; Gholizadeh S5 ; Khabbazi A6 ; Khodadadi H7 ; Sakhinia E6, 7 ; Babaloo Z1, 2
Authors
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Authors Affiliations
  1. 1. Drug Applied Research Center, Tabriz University of Medical Science, Tabriz, Iran
  2. 2. Department of Immunology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
  3. 3. Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
  4. 4. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Social Determinants of Health Research Center, Urmia University of Medical Sciences, Urmia, Iran
  6. 6. Connective Tissue Disease Research Center, Rheumatology Research Team, Tabriz University of Medical Sciences, Tabriz Genetic Analysis Center (TGAC), Division of Medical Genetics, Faculty of Medicine, Tabriz, Iran
  7. 7. Division of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran

Source: Clinical Laboratory Published:2015


Abstract

Background: Behcet's Disease (BD) is a rare autoimmune disease that involves the dysfunction of regulatory T cells. FOXP3 is a key transcription factor in the development and function of Treg cells. Recent studies have shown SNPs in the FOXP3 contribute to the susceptibility to some autoimmune disorders. Methods: To clarify the association between the FOXP3 gene and the risk of BD, 50 patients diagnosed with BD and 50 healthy controls from north-western Iran were genotyped by PCR-RFLP (Mun I and Pst I) for two SNPs including rs3761547 (-3499T/C) and rs3761548 (-3279 C/A) in the promoter region of the FOXP3 gene. In addition, a 506 bp nucleotide sequence of FOXP3 promoter was analyzed. Results: The allele-3279 C/A was significantly associated with BD [p = 0.002; odds ratio (OR) = 3.841; 95% confidence interval (CI) 1.610-9.161]; whereas, there was no contribution of the FOXP3 polymorphism-3499T/C to BD [(p = 0.084); (OR = 0.348, 95% CI = 0.101-1.195)]. Meanwhile, sequence analysis showed 100% similarity in both controls and BD patient groups. Conclusions: Therefore, the SNP rs3761548 in the FOXP3 gene appears to contribute to the risk of Behcet's disease among the north-western Iranian population. © Copyright.