Introduction: FOXP3 is a critical determinant of T regulatory cells (Tregs) development and function. Treg cells play a crucial role in modulating potentially self-reactive clones, and dysfunction of this cell type contributes to autoimmune disease such as Graves disease (GD) and Hashimotos thyroiditis (HT). The aim of our study was to estimate the association of three polymorphism of FOXP3 gene with the predisposition to GD and HT in Polish population.
Description of methods: The study was performed in the group consisting of 98 patients with GD (mean age, 17.3±6), 39 patients with HT (mean age, 18±4.5) sequentially recruited from the endocrinology outpatient clinic and 158 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 and conclusion: In our study the frequencies of −3279TT (rs3761548) genotype was less frequent in female patients with HT in comparison to healthy female (1 vs 18%, P=0.033). There were no differences in the distribution of other analyzed polymorphisms of FOXP3 gene between the studied group. This result may suggests that −3279G/T polymorphism in FOXP3 gene could have a protective role in predisposition to HT.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
05 - 09 May 2012
European Society of Endocrinology