母亲的维生素A状况是儿童春病的风险因素
Shalini G Hegde1, Sarita Devi2, Ambily Sivadas2
1Department of Paediatric Surgery, St. John's Medical College Hospital, Bangalore, India.
Clinical and translational gastroenterology
|July 25, 2023
概括
患有赫施普隆病 (HSCR) 的孩子的母亲的维生素A储量较低. 这种缺陷可能会通过影响RET基因突变的透来增加HSCR的风险,这表明基因与环境的相互作用.
科学领域:
- 遗传学和发育生物学
- 营养科学 营养科学
- 儿科医学 儿科医学
背景情况:
- 赫施普隆病 (HSCR) 是一种具有复杂病因的先天性疾病.
- 基因与环境的相互作用,特别是涉及REarranged during Transfection (RET) 基因和维生素A,涉及到动物模型中的HSCR病原体.
研究的目的:
- 为了调查患有HSCR的儿童母亲的维生素A状况.
- 探索母亲的维生素A水平与受影响儿童RET基因的致病变体之间的关联.
主要方法:
- 一项用稳定同位素测量方法比较HSCR患者母亲的维生素A储量和对照者的病例对照研究.
- 在HSCR探针 - 亲三位体中对RET基因外型和促进子区域进行下一代测序,以识别致病变体.
主要成果:
- 与对照组相比,在HSCR组中,母亲的维生素A肝脏储量大约比HSCR组低50% (P=0.079).
- 发现了两种新的致病性新型RET突变和一种罕见的RET上游删除.
- 与HSCR相关的低透率RET单元类型在7个病例中的5个中被发现.
结论:
- 较低的母体维生素A水平可能与希尔施普朗格病有关.
- 降低维生素A水平可能会增强遗传RET突变的透性,这表明HSCR病因学中存在显著的基因环境相互作用.
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