Background: Forkhead box P3 (Foxp3) is an important regulatory factor for the development and function of T regulatory cells (Tregs). Moreover it has been established that deficiency of the Foxp3 gene in Treg cells suppresses their regulatory function leading to the development of autoimmune diseases especially autoimmune thyroid diseases (AITDs).
Objective and hypotheses: The aim of our study was to estimate the association of three polymorphism of FOXP3 gene with the predisposition to GD and HT in children and adolescents.
Method: The study was performed in the group consisting of 145 patients with GD (mean age, 16.5±2), 87 patients with HT (mean age, 15.2±2.2) sequentially recruited from the endocrinology outpatient clinic and 161 healthy volunteers (mean age, 16.3±3). DNA was extracted from the peripheral blood leukocytes using a classical salting out method. The three SNPs rs3761549 (−2383C/T), rs3761548 (−3279G/T) and rs3761547 (−3499T/C) in the FOXP3 gene were genotyped by TaqMan SNP genotyping assay using the real-time PCR method. The levels of thyroid hormones, TSH, and anti-thyroid autoantibody were determined using chemiluminescence method.
Results: In our study the frequencies of rs3761549G/A genotype was more frequent in female patients with GD in comparison to healthy female (P=0.03). There were no differences in the distribution of other analyzed polymorphisms of FOXP3 gene between the studied groups.
Conclusion: In conclusion, this result may suggest that rs3761548G/A polymorphism in Foxp3 gene may determine predisposition to GD.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology