在欧洲队列中,FOXE1 多态 rs965513 倾向于甲状腺癌
Patrick W Owens1, Terri Patricia McVeigh2, Nicola Miller1
1Discipline of Surgery, Lambe Institute for Translational Research, School of Medicine, National University of Ireland, Galway, Ireland.
Endocrine oncology (Bristol, England)
|July 12, 2023
概括
FOXE1基因变体rs965513与西欧人的差异化甲状腺癌 (DTC) 易感性有关. 携带这种变异会增加患DTC的风险,携带两个副本的人的风险更高.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 内分泌学 在内分泌学.
背景情况:
- FOXE1基因对甲状腺发育至关重要,其突变与包括癌症在内的各种甲状腺疾病有关.
- 在FOXE1中单核酸多态 (SNP) 可能会影响对差异化甲状腺癌 (DTC) 的易感性.
研究的目的:
- 在西欧队列中调查FOXE1基因SNP rs965513 (G>A) 与差异化甲状腺癌 (DTC) 的频率和相关性.
- 为了比较DTC患者和无癌症对照者之间rs965513的等位基因和基因型频率.
主要方法:
- 一项候选基因病例控制研究,涉及277名DTC患者和309名来自爱尔兰和法国的对照.
- 使用基于Taqman的PCR进行rs965513变异的DNA基因型鉴定.
- 病例和对照群之间的等位基因和基因型频率的比较,以确定疾病风险.
主要成果:
- rs965513的小等位基因频率在DTC患者 (0.45) 中明显高于对照组 (0.34).
- 异卵性载体的赔率比为1.66,而罕见的同卵性载体的赔率比为2.93的DTC.
- 所有研究对象都处于哈迪-韦恩伯格平衡状态.
结论:
- FOXE1多态 rs965513是一种低透性的变体,与对差异化甲状腺癌 (DTC) 的敏感性增加有关.
- 观察到一种等位基因剂量效应,表明随着小等位基因拷贝的增加,风险更大.
- 这一发现突显了特定遗传变异在受研究的人群中甲状腺癌风险中的作用.
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