Artur Bossowski
Medical University of Bialystok, Poland
Title: Analysis of chosen polymorphisms rs2476601 A/G - PTPN22, rs1990760 C/T - IFIH1, rs179247 A/G - TSHR in pathogenesis of autoimmune thyroid diseases in children
Biography
Biography: Artur Bossowski
Abstract
Introduction: Autoimmune thyroid diseases are multi-factorial 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 thyroid-stimulating hormone receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases(AITDs) in children has not been established equivocally yet. Aim: To estimate the association of polymorphisms of protein tyrosine phosphatase non-receptor type 22 genes, the interferon induced helicase domain 1 gene, thyroid-stimulating hormone receptor gene with the predisposition to Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) in children. Methods: The study was performed in 142 patients with GD, 57 with HT and 160 healthy volunteers. The three single nucleotide polymorphisms (SNPs): rs2476601 - PTPN22 in the protein tyrosine phosphatase non-receptor type 22 gene, rs1990760 - IFIH1 in the interferon induced helicase domain 1 gene, rs179247 - TSHR in the thyroid-stimulating hormone receptor gene were genotyped by Taq-Man SNP genotyping assay using the real-time PCR. Furthermore, the interaction between rs1990760, rs2476601, rs179247 polymorphisms and the status of thyroglobulin antibody (TgAb), thyroid peroxidase antibody (TPOAb) and TSH receptor antibody (TRAb) were analyzed. Results: rs2476601: Our study revealed that rs2476601-A alleles were more frequent (18% in men and 20% in women) in GD patients in comparison to healthy subjects (11% in men and 10% in women). P-value=0.009 with OR=2.13 and 95% confidence interval for OR: 1.2–4.0, what means that risk for development of GD is over two times higher for A allele in comparison to G allele. Moreover rs2476601 A alleles were more frequent (25% in men and 21% in women) in HT patients in comparison to healthy subjects (11% in men and 10% in women). P-value=0.008 with OR=2.48 and 95% confidence interval for OR: 1.3–5.0, what means that risk for development of HT is two and a half times higher for A allele in comparison to G allele. rs1990760: Rs1990760 T alleles were more frequent in GD male patients in comparison to healthy males (69% vs. 42%). P-value=0.003 with OR=3.00 and 95% confidence interval for OR: 1.5–6.2, what means that risk for development of GD is three times higher for T allele in comparison to C allele, when considering male group. In case of HT patients rs1990760 T alleles were also more frequent in males compared to healthy subjects (65% vs. 42%). P-value=0.086 with OR=2.47 and 95% confidence interval for OR: 0.9–7.5, what means that risk for development of HT is nearly two and a half times higher for T allele in comparison to C allele. Results for female group were non-significant from the statistical point of view, hence are not discussed here. rs179247: Our study revealed that rs179247 A alleles were more frequent (47% both in men and women) in GD patients in comparison to healthy subjects (37% in men and 38% in women). P-value=0.039 with OR=1.51 and 95% confidence interval for OR: 1.0–2.3, what means that risk for development of GD is over two times higher for A allele in comparison to G allele. Conclusions: Rs2476601: A/G polymorphism in protein tyrosine phosphatase non-receptor type 22 gene could contribute to development of AITDs in children and A allele is the main risk factor. Rs1990760: C/T polymorphism in the interferon induced helicase domain 1 gene could contribute to development of AITDs in children and T allele is the main risk factor. Rs179247: A/G polymorphism in thyroid-stimulating hormone receptor gene could contribute to development of AITDs in children and A allele is the main risk factor.