在ADAM17/TACE的遗传变异与偶发性阿尔茨海默病风险,神经精神病症状和在Rey听力口语学习和时钟绘图测试中的认知表现有关
Francesco Bruno1, Mirella A Aceto2, Ersilia Paparazzo2
1Department of Human and Social Sciences, Faculty of Social and Communication Sciences, Universitas Mercatorum, Rome, Italy.
PloS one
|May 6, 2025
概括
在ADAM17/TACE基因的遗传变异影响阿尔茨海默病的风险和症状. 特定的基因多态性与偶发性阿尔茨海默病患者的认知衰退和神经精神问题有关.
科学领域:
- 神经遗传学 神经遗传学
- 阿尔茨海默氏症疾病研究研究
- 分子生物学分子生物学
背景情况:
- ADAM17/TACE基因在阿尔茨海默病 (AD) 发病过程中起着至关重要的作用.
- ADAM17/TACE基因多态化对AD发展和特征的特定影响仍未得到充分研究.
研究的目的:
- 为了研究ADAM17/TACE基因多态化与风险,发病年龄,认知障碍,神经精神病症状和间歇性阿尔茨海默病 (sAD) 中的中叶缩之间的关联.
主要方法:
- 一个病例控制关联研究,涉及297名sAD患者和316名意大利队列的对照.
- 在ADAM17/TACE基因中的七个标签单核酸多态 (SNPs) 的基因定型.
- 应用线性和逻辑回归分析来评估遗传关联.
主要成果:
- 在ADAM17/TACE中的rs12692385多态性与sAD风险和Rey听力口语学习测试 (延迟回忆) 的表现有关.
- rs13008101的多态性显著影响了时钟绘图测试的性能.
- SNP rs10179642和rs35280016与幻觉的频率/严重性和分别的兴奋/侵略性增加相关.
结论:
- ADAM17/TACE基因的变异性影响了SAD风险,认知功能和神经精神疾病症状.
- 这些发现提高了对sAD的遗传基础的理解.
- 结果可能会为新的治疗策略和以ADAM17/TACE途径为目标的未来研究提供信息.
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