ESPE Abstracts (2015) 84 P-2-561

Analysis of Chosen Polymorphisms rs5742909 C/T - CTLA4, rs7522061 C/T - FCRL3, rs7138803 A/G - FAIM2 in Pathogenesis of Autoimmune Thyroid Diseases in Children

Ewa Jakubowskaa, Joanna Goscikb,c, Natalia Wawrusiewicz-Kurylonekd, Anna Bossowskae, Adam Kretowskid & Artur Bossowskia


aDepartment pf Paediatric Endocrinology, Diabetology with Cardiology Division, Medical University of Bialystok, Bialystok, Poland; bFaculty of Computer Science, Software Department, Bialystok University of Technology, Bialystok, Poland; cDiabetology with Cardiology Division, Centre for Experimental Medicine, Medical University of Bialystok, Bialystok, Poland; dDepartment of Endocrinology and Diabetes with Internal Medicine, Medical University of Bialystok, Bialystok, Poland; eDivision of Cardiology, Internal Affairs and Administration Ministry Hospital in Bialystok, Bialystok, Poland


Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.

Objective and hypotheses: To estimate the association of polymorphisms of CTLA4, FCRL3 and FAIM2 genes with the predisposition to Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) in children.

Method: The study was performed in 142 patients with GD, 57 with HT and 160 healthy volunteers. The three single nucleotide polymorphisms (SNPs): rs5742909 – CTLA4, rs7522061 – FCRL3 and rs7138803 – FAIM2 were genotyped by TaqMan SNP genotyping assay using the real-time PCR.

Results: Rs5742909 C alleles were more frequent in GD patients in comparison to healthy subjects (P=0.029 with OR=1.8). It means that risk for development of GD is exactly 1.8 higher for C allele in comparison to T allele. Rs7522061 C alleles were more frequent in GB patients in comparison to healthy subjects (P=0.007, OR=1.76). Rs7138803 A alleles were more frequent in HT patients in comparison to healthy subjects (P=0.025, OR=3.57). Rs7522061 C alleles were also more frequent in GD female patients in comparison to healthy subjects (P=0.021, OR=1.87). In case of HT patients rs7138803 A alleles were also more frequent in females compared to healthy subjects (P=0.069, OR=1.87).

Conclusion: Rs5742909 C/T, Rs7522061 C/T and Rs7138803 A/G polymorphisms could contribute to development of AITDs in children. The main risk factor for rs5742909 and also rs7522061 is allele C. In case of rs7138803 the main risk factor is allele A.

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