Genetic Association of Promoter FOXP3 Gene Polymorphism with Behcet's Disease in Egyptians Patients

Authors:

Abdelmoktader A*, Bassyoun RH, Wegdan AA, Talaat RM and Bassyouni IM

Volume 2, Issue 2

Abstract

T regulatory ( T reg) cell is one of the immune system cells involved in the pathogenesis of BD , defined by the expression of CD4, CD25 and the transcription factor forkhead box (FOXP3) which is master regulator for the development and function of Treg cells.

Forkhead box P3 (FoxP3) gene encodes a transcription factor with crucial roles in the development and function of Treg cells. This pilot study was designed to investigate the association between FOXP3 gene polymorphism (-3499A/G and -3279C/A) with Behcet's disease. Genotyping polymorphism is performed using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) in 69 Egyptian patients with BD and 84 normal controls. No association between any genotype of Foxp3 (-3499 A/G) and (-3279 C/A ) polymorphism and the susceptibility to BD.

It was found that male patients with BD had significantly lower frequency of -3279 C allele (P <0.05) than healthy control. Also BD patient totally have lower frequency of total C allele. C allele is negatively correlated with BD patient (r= 0.495; P<0.05), it might be protective allele.

Also we found Significant association between Foxp3 (-3279 C/A) A allele and neural involvement in BD was found that patients with neural involvement had significantly heigher frequency of -3279 A allele (P= 0.048) than patients without and neural involvement is positively correlated with -3279 A allele (r=2.31).Taking into consideration the fact that genetic polymorphisms are population specific, our data stressed the importance of FOXP3 gene polymorphism in developing Behcet's disease. To the best of our knowledge, this study is the first one that examines FOXP3 polymorphism in Behcet's disease. Additional prospective studies on larger population are needed to confirm our findings.

Keywords:

Behcet's disease; Polymorphism; FOXP3; Treg

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