a Department of Pediatric Endocrinology , Diabetology with Cardiology Division, Medical University of Białystok , Białystok , Poland.
b Software Department, Faculty of Computer Science , Białystok University of Technology , Białystok , Poland.
Autoimmunity. 2018 Jun;51(4):183-190. doi: 10.1080/08916934.2018.1486824. Epub 2018 Jul 4.
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 thyroid-stimulating hormone receptor (TSHR) gene polymorphisms on autoimmune thyroid diseases (AITDs) in adults has been established unequivocally, but there is still lack of research articles including group of children. Objective and hypotheses: To estimate the association of polymorphisms of PTPN22, IFIH1 and TSH-R genes with the pre-disposition to Graves' disease (GD) and Hashimoto's thyroiditis (HT) in children.
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.
Rs2476601 A alleles were more frequent in patients with GD in comparison to healthy subjects (p = .009 with odds ratio [OR] = 2.13). Rs2476601 A alleles were more frequent in patients with HT in comparison to healthy subjects (p = .008, OR = 2.48). Rs1990760 T alleles were more frequent in male patients with GD in comparison to healthy males (p = .003, OR = 3.00). In case of HT patients, rs1990760 T alleles were also more frequent in males compared to healthy subjects (p = .086, OR =2.47). Rs179247 A alleles were more frequent in patients with GD in comparison to healthy subjects (p = 0.039, OR = 1.51).
Rs2476601 A/G, Rs1990760 C/T and Rs179247 A/G polymorphisms could contribute to the development of AITDs in children. The main risk factor for rs2476601 and rs179247 is allele A. In case of rs1990760, the main risk factor is allele T.
自身免疫性甲状腺疾病是一种多因素疾病，具有遗传易感性和环境因素。蛋白酪氨酸磷酸酶非受体型 22（PTPN22）基因、干扰素诱导的螺旋酶域 1（IFIH1）基因、促甲状腺激素受体（TSHR）基因多态性与成人自身免疫性甲状腺疾病（AITD）的关系已得到明确证实，但仍缺乏包括儿童组在内的研究文章。目的和假设：评估 PTPN22、IFIH1 和 TSH-R 基因多态性与儿童格雷夫斯病（GD）和桥本甲状腺炎（HT）易感性的关系。
本研究纳入 142 例 GD 患者、57 例 HT 患者和 160 名健康志愿者。采用 TaqMan SNP 基因分型检测法，通过实时 PCR 对 rs2476601-PTPN22、rs1990760-IFIH1 和 rs179247-TSHR 三个单核苷酸多态性（SNP）进行基因分型。
与健康对照组相比，GD 患者 rs2476601 的 A 等位基因更为常见（p=0.009，比值比[OR]为 2.13）。与健康对照组相比，HT 患者 rs2476601 的 A 等位基因更为常见（p=0.008，OR 为 2.48）。与健康男性相比，GD 男性患者 rs1990760 的 T 等位基因更为常见（p=0.003，OR 为 3.00）。对于 HT 患者，与健康对照组相比，rs1990760 的 T 等位基因在男性中也更为常见（p=0.086，OR=2.47）。与健康对照组相比，GD 患者 rs179247 的 A 等位基因更为常见（p=0.039，OR 为 1.51）。
rs2476601 A/G、rs1990760 C/T 和 rs179247 A/G 多态性可能导致儿童 AITD 的发生。rs2476601 和 rs179247 的主要危险因素是等位基因 A。对于 rs1990760，主要危险因素是等位基因 T。
