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关于677CT多态MTHFR在儿童和青少年与哈希莫托的甲状腺炎的研究:一个原始的病例对照研究
Savvas Kolanis1, Elisavet Georgiou2, Eleni P Kotanidou1
12nd Department of Paediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University Hospital, 54636 Thessaloniki, Greece.
Diagnostics (Basel, Switzerland)
|June 13, 2025
概括
哈希莫托甲状腺炎 (HT) 患儿患有甲基基叶酸减少酶 (MTHFR) 677C>T基因多态的患病率较高. 这种遗传变异与儿科HT患者甲状腺抗体水平增加有关.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 儿科 儿科 儿科
背景情况:
- 哈西莫托甲状腺炎 (HT) 是儿童和青少年甲状腺功能低下的主要原因.
- 在儿童群体中,HT增加了对甲状腺结节和癌症的易感性.
- 甲基酸酸减少酶 (MTHFR) 基因677C>T多态性与甲状腺癌病因有关.
研究的目的:
- 调查MTHFR 677C>T多态 (rs1801133) 与儿童和青少年HT之间的关联.
- 这是第一个在儿科队列中探索这种特定遗传联系的研究.
主要方法:
- 一项病例控制研究,涉及130名患有HT的儿童和青少年和130名健康对照.
- 限制片段长度多态 (RFLP) 用于分析MTHFR 677C>T多态.
主要成果:
- 与对照人群相比,患有HT的个体显示T等位基因序列 (CT和TT变异) 和MTHFR 677C>T多态的T等位基因总数的频率是T等位基因序列的2.5倍.
- 患有HT和T等位基因序列的儿童和青少年患有异常铁血球蛋白抗体 (抗TG) 的发生率是野生型 (CC) 序列的儿童和青少年的两倍.
结论:
- 患有HT的儿科患者表现出T等位基因序列 (CT和TT变异) 的频率显著增加以及MTHFR 677C>T多态的T等位基因总数.
- 在儿童和青少年中,MTHFR 677C>T多态与HT和高抗TG水平有关.
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