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MTOR多形态对孕前易感性,严重程度和发病的可能影响:病例对照研究和in silico分析

Mahnaz Rezaei^1,2, Marzieh Ghasemi^3,4, Mohsen Saravani^1,2

¹Cellular and Molecular Research Center, Resistant Tuberculosis Institute, Zahedan University of Medical Sciences, Zahedan, Iran.

Molecular biology reports

|February 23, 2024

概括

在MTOR基因的遗传变异,特别是rs17036508,与孕前 (PE) 的风险和发病有关. 另一个变体rs2295080与早期发病的PE和疾病严重程度有关.

科学领域:

遗传学是一个遗传学.
产科产科产科产科产科
分子生物学分子生物学

背景情况:

孕前 (PE) 是一种严重的妊娠并发症,其特征是高血压和蛋白尿.
拉巴胺素 (mTOR) 途径的机械性标在与怀孕相关的各种细胞功能中起作用.

研究的目的:

调查mTOR基因多态化与孕前的风险,严重程度和发病之间的关联.
分析已识别的多形态对基因调节的 in silico 影响.

主要方法:

在250名PE患者和258名对照中使用PCR-RFLP对mTOR多态 (rs17036508,rs2536,rs2295080) 的基因定型.
在Silico分析中使用SpliceAid 2和PROMO工具来预测功能影响.
对早期发病和晚期发病的PE进行哈普洛型和子组分析.

主要成果:

母亲的mTOR rs17036508T/C多态性与整体PE风险有显著的相关性.
单元型TTC和TGC (rs2536/rs2295080/rs17036508) 在PE患者中更为普遍.
mTOR rs2295080变异与早期发病的PE和严重的PE风险增加相关.
mTOR rs17036508变种与早期和晚期发作的PE有关.
在 silico 分析表明 rs17036508 破坏结合基因,此处的 T 到 C 替换可能会取消 TFII-I 结合基因.

结论:

mTOR rs17036508T/C多态性是孕前的一个危险因素.
mTOR rs2295080变异与早期发病的先兆子的风险增加有关.
这些mTOR变异可能通过破坏转录因子结合部位来影响基因调节,从而导致PE的发病.

关键词:

在形分析中进行了分析.在 MTOR 中,我们可以使用 MTOR.多态性多态性多态性孕前症孕前症

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