ECE2014 Poster Presentations Thyroid (non-cancer) (125 abstracts)
Analysis of chosen polymorphisms in FoxP3 gene in children and adolescents with autoimmune thyroid diseases
Artur Bossowski 1 , Hanna Borysewicz-Sanczyk 1 , Natalia Wawrusiewicz-Kurylonek 2 , Mieczyslaw Szalecki 3 , Beata Wikiera 4 , Ewa Barg 5 , Malgorzata Mysliwiec 6 , Anna Kucharska 7 , Anna Bossowska 8 , Maria Górska 2 & Adam Kretowski 2
1Department of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University in Białystok, Bialystok, Poland; 2Department of Endocrinology, Diabetes with Internal Medicine, Bialystok, Poland; 3Clinic of Endocrinology and Diabetology, Children’s Memorial Health Institute, Warsaw, Poland; 4Department of Endocrinology and Diabetology for Children and Adolescents, Wrocław Medical University, Wrocław, Poland; 5Department of Basic Medical Sciences, Wrocław, Poland; 6Department of Pediatrics, Endocrinology and Diabetology, Medical University in Gdansk, Gdansk, Poland; 7Department of Pediatrics and Endocrinology, Medical University in Warsaw, Warsaw, Poland; 8Division of Cardiology, Internal Affairs and Administration Ministry Hospital in Bialystok, Bialystok, Poland.
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 thyroid diseases (AITDs). 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.
The study was performed in the group of 145 patients with GD (mean age, 16.5±2), 87 patients with HT (mean age, 15.2±2.2) 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.
In our study, rs3761549G/A genotype was more frequent in females with GD in comparison to healthy female subjects (15 vs 7%, P=0.033) with OR=2.15 and 95% CI for OR: 1.07–4.63. We also observed rs3761547T/C to be more frequent in females with GD in comparison to control females and this difference was close to being statistically important (13 vs 7%, P=0.066) with OR=1.99 and 95% CI for OR: 0.96–4.48. There were no significant differences in males in the analyzed SNPs and in females with rs3761548 SNP.
In conclusion, these results may suggest that rs3761549G/A polymorphism in Foxp3 gene could contribute to GD development in females.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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