Department of Pediatrics, College of Medicine, St. Vincent's Hospital, The Catholic University of Korea, Seoul, Korea.
Catholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Immun Inflamm Dis. 2023 Mar;11(3):e800. doi: 10.1002/iid3.800.
Autoimmune thyroid disease (AITD) manifests with a female predominance, and much attention has been directed towards the integral membrane protein 2 A (ITM2A) gene located on the X chromosome.
In a study of 166 pediatric patients with autoimmune thyroid disease (AITD), the ITM2A rs1751094 single-nucleotide polymorphism (SNP) was genotyped. The sample comprised 143 females and 23 males, with 67 patients diagnosed with Hashimoto chronic thyroiditis (HD) and 99 with Graves' disease (GD). In the 99 GD patients, 49 (49.5%) exhibited thyroid-associated ophthalmopathy (TAO). Among the 85 GD patients, 70.6% (60/85) were considered intractable GD. The results were compared to those from 198 healthy Korean individuals, including 97 females and 101 males.
The frequency of the rs1751094 C allele and CC/AC genotype were higher in AITD, GD and HD patients compared to controls, while the frequency of the A allele and AA genotype were lower. The results were more pronounced in female AITD and GD patients compared to male patients. The association was also found in intractable GD and TAO patients. Target SNP fits Hardy-Weinberg equilibrium.
These findings indicate that the ITM2A gene polymorphism on the X chromosome may contribute to the immunological basis of female-predominant AITD in Korean children.
自身免疫性甲状腺疾病（AITD）以女性为主导，因此人们对位于 X 染色体上的整合膜蛋白 2A（ITM2A）基因给予了极大关注。
在一项针对 166 名自身免疫性甲状腺疾病（AITD）儿科患者的研究中，对 ITM2A rs1751094 单核苷酸多态性（SNP）进行了基因分型。该样本包括 143 名女性和 23 名男性，其中 67 名患者被诊断为桥本氏慢性甲状腺炎（HD），99 名患者为格雷夫斯病（GD）。在 99 名 GD 患者中，有 49 名（49.5%）患有甲状腺相关眼病（TAO）。在 85 名 GD 患者中，70.6%（60/85）被认为是难治性 GD。将结果与 198 名健康韩国人进行比较，其中包括 97 名女性和 101 名男性。
与对照组相比，AITD、GD 和 HD 患者的 rs1751094 C 等位基因和 CC/AC 基因型频率更高，而 A 等位基因和 AA 基因型频率更低。女性 AITD 和 GD 患者的结果比男性患者更为明显。这种关联也存在于难治性 GD 和 TAO 患者中。目标 SNP 符合 Hardy-Weinberg 平衡。
这些发现表明，X 染色体上的 ITM2A 基因多态性可能导致韩国儿童中女性为主导的自身免疫性甲状腺疾病的免疫基础。
