ESPE Abstracts

Background: Hashimito's Thyroiditis is influenced by genetic and environmental factors. Interleukin-2 receptor alpha chain (IL2RA) gene polymorphism and Cytotoxic T-lymphocyte antigen 4 (CTLA 4) gene polymorphism are known to be associated with HT, but have not been established in a Caucasian children population yet. The Fas Apoptotic Inhibitory Molecule 2 (FAIM2) gene polymorphisms impact on the development of HT in children has not been reported yet.

Objective and Hypotheses: To estimate the association of polymorphisms of IL2RA, CTLA 4, FAIM2 genes with the predisposition to HT in children.

Method: The study was performed in 81 patients with HT and 160 healthy volunteers recruited from two endocrine centers from Poland and Italy. The three single nucleotide polymorphisms (SNPs): rs7093069, rs5742909, rs7138803 were genotyped by TaqMan SNP genotyping assay using the real-time PCR.

Results: Rs7093069 C alleles were more frequent in patients with HT in comparison to healthy subjects (P=0.035 with OR=1,5). Rs5742909 C alleles were more frequent in HT patients in comparison to healthy subjects (P=0.049, OR=1,7). Rs7138803 A alleles were more frequent in HT patients in comparison to healthy subjects (P=0.022 with OR=1,5).

Conclusion: Rs7093069 C/T IL2RA, rs5742909 C/T CTLA 4, rs7138803 A/G FAIM2 polymorphisms could contribute to development of HT in children. The main risk factor for rs7093069 and for rs5742909 is C allele for rs7138803 A allele.