Department of Pediatrics, Endocrinology, Diabetology with Cardiology Divisions, Medical University of Bialystok, J. Waszyngtona 17, 15-274 Bialystok, Poland.
Department of Clinical Genetics, Medical University of Bialystok, J. Waszyngtona 13, 15-089 Bialystok, Poland.
Int J Mol Sci. 2024 Apr 4;25(7):4028. doi: 10.3390/ijms25074028.
Hashimoto's thyroiditis (HT) and Graves' disease (GD) are common autoimmune endocrine disorders in children. Studies indicate that apart from environmental factors, genetic background significantly contributes to the development of these diseases. This study aimed to assess the prevalence of selected single-nucleotide polymorphisms (SNPs) of Il7R, CD226, CAPSL, and CLEC16A genes in children with autoimmune thyroid diseases. We analyzed SNPs at the locus rs3194051, rs6897932 of IL7R, rs763361 of CD226, rs1010601 of CAPSL, and rs725613 of CLEC16A gene in 56 HT patients, 124 GD patients, and 156 healthy children. We observed significant differences in alleles IL7R (rs6897932) between HT males and the control group (C > T, = 0.028) and between all GD patients and healthy children (C > T, = 0.035) as well as GD females and controls (C > T, = 0.018). Moreover, the C/T genotype was less frequent in GD patients at rs6897932 locus and in HT males at rs1010601 locus. The presence of the T allele in the IL7R (rs6897932) locus appears to have a protective effect against HT in males and GD in all children. Similarly, the presence of the T allele in the CAPSL locus (rs1010601) seems to reduce the risk of HT development in all patients.
桥本甲状腺炎（HT）和格雷夫斯病（GD）是儿童常见的自身免疫性内分泌疾病。研究表明，除环境因素外，遗传背景对这些疾病的发生有重要影响。本研究旨在评估儿童自身免疫性甲状腺疾病患者中 Il7R、CD226、CAPSL 和 CLEC16A 基因的选定单核苷酸多态性（SNP）的流行情况。我们分析了 IL7R 基因座 rs3194051、rs6897932，CD226 基因座 rs763361，CAPSL 基因座 rs1010601 和 CLEC16A 基因座 rs725613 的 SNP，共纳入 56 例 HT 患者、124 例 GD 患者和 156 例健康儿童。我们观察到 HT 男性与对照组（C > T， = 0.028）和所有 GD 患者与健康儿童（C > T， = 0.035）以及 GD 女性与对照组（C > T， = 0.018）之间的 IL7R（rs6897932）等位基因存在显著差异。此外，在 rs6897932 基因座上，GD 患者和 HT 男性的 C/T 基因型频率较低。IL7R（rs6897932）基因座上 T 等位基因的存在似乎对男性 HT 和所有儿童 GD 有保护作用。同样，CAPSL 基因座（rs1010601）上 T 等位基因的存在似乎降低了所有患者发生 HT 的风险。
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