ESPE Abstracts (2015) 84 FC13.2

Analysis of Chosen Polymorphisms rs2476601 A/G - PTPN22, rs1990760 C/T - IFIH1, rs179247 A/G - TSHR in Pathogenesis of Autoimmune Thyroid Diseases in Children

Aleksandra Goralczyka, Joanna Goscikb,c, Natalia Wawrusiewicz-Kurylonekd, Anna Bossowskae, Adam Kretowskid & Artur Bossowskia


aDiabetology with Cardiology Division, Department of Pediatric Endocrinology, Medical University of Bialystok, Bialystok, Poland; bSoftware Department, Faculty of Computer Science, 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 in 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 the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) 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 PTPN22, IFIH1 and TSH-R 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): rs2476601 – PTPN22, rs1990760 – IFIH1 and rs179247 – TSHR were genotyped by TaqMan SNP genotyping assay using the real-time PCR.

Results: Rs2476601 A alleles were more frequent in GD patients in comparison to healthy subjects (P=0.009 with OR=2.13). It means that risk for development of GD is exactly 2.13 higher for A allele in comparison to G allele. Rs2476601 A alleles were more frequent in HT patients in comparison to healthy subjects (P=0.008, OR=2.48). Rs1990760 T alleles were more frequent in GD male patients in comparison to healthy males (P=0.003, OR=3.00). In case of HT patients rs1990760 T alleles were also more frequent in males compared to healthy subjects (P=0.086, OR=2.47). Rs179247 A alleles were more frequent in GD patients in comparison to healthy subjects (P=0.039, OR=1.51).

Conclusion: Rs2476601 A/G, Rs1990760 C/T and Rs179247 A/G polymorphisms could contribute to development of AITDs in children. The main risk factor for rs1990760 and rs179247 is allele A. In case of rs1990760 the main risk factor is allele T.

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