FTO基因多态化与唐氏综合征儿童肥胖之间的关联
Shereen A Mourad1, Reham M El-Farahaty1, Mohamed A Atwa1
1Department of Clinical Pathology Faculty of Medicine, Mansoura University, Mansoura, Egypt.
European journal of pediatrics
|December 20, 2024
概括
FTO rs17817449基因变异与唐氏综合征 (DS) 儿童的超重和肥胖有关. 特定的基因型 (GT和TT) 和T等位基因被确定为该人群中肥胖预测的独立风险因素.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 儿科 儿科 儿科
- 肥胖问题研究研究
背景情况:
- 患有唐氏综合征 (DS) 的儿童患超重和肥胖的患病率高于通常发育的儿童.
- 脂肪质量和与肥胖相关的 (FTO) 基因rs17817449多态性与肥胖有关,但其在DS中的作用需要进一步调查.
- 以前的研究表明,关于FTO rs17817449的肥胖发展风险等位基因的信息是相互矛盾的.
研究的目的:
- 调查FTO rs17817449基因多态和唐氏综合征儿童肥胖标志物之间的关联.
- 评估FTO rs17817449多态体对DS儿童和青少年超重和肥胖的预测能力.
主要方法:
- 一项涉及100名患有唐氏综合征 (DS) 的18岁以下儿童的病例控制研究.
- 参与者根据BMI百分位被分为非肥胖的DS (NODS),超重的DS和肥胖的DS (ODS) 组.
- 使用RFLP-PCR进行了FTO rs17817449多态的基因定型,并评估了血清脂质和甲状腺特征.
主要成果:
- 与NODS儿童相比,在超重/肥胖的DS儿童中观察到FTO rs17817449 T等位基因频率的显著增加 (p=0.0099).
- 与NODS儿童相比,超重/ODS儿童的FTO rs17817449 GT和TT基因型的频率明显更高.
- 该研究确定了FTO rs17817449 GT和TT基因型,以及甘油三水平,作为预测DS儿童超重和肥胖的独立风险因素.
结论:
- FTO rs17817449遗传变体与唐氏综合征儿童的超重和肥胖有关.
- FTO rs17817449 GT和TT基因型,以及甘油三水平,是DS儿童超重和肥胖的独立预测因素.
- 这些发现突出了FTO rs17817449多态的潜在实用性,用于识别患有肥胖风险较高的DS儿童.
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