早期发病的阿尔茨海默病是由晚期发病的多基因风险解释的吗?
William G Mantyh1, J Nicholas Cochran2, Jared W Taylor2
1Department of Neurology University of Minnesota Minneapolis Minnesota USA.
Alzheimer's & dementia (Amsterdam, Netherlands)
|October 2, 2023
概括
早期发病的阿尔茨海默氏病 (AD) 并非源于晚期发病的AD中常见的遗传风险. 显而易见的遗传因素可能导致早期发病的阿尔茨海默病,因此需要进一步研究新的遗传风险因素.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 老年学是一门学科.
背景情况:
- 早期发病的阿尔茨海默病 (AD) 是高度遗传的,但已知的突变仅解释了10%的病例.
- 对于晚期发病的AD (LOAD) 的常见遗传风险因素被假设为解释没有主导突变的患者早期发病的AD (EOAD).
研究的目的:
- 调查与LOAD相关的常见单核酸多态 (SNP) 是否对EOAD有显著的贡献.
- 为了确定是否对LOAD的验证的多基因危险评分可以预测EOAD发病或其生物标志物.
主要方法:
- 对193名EOAD患者进行了LOAD的多基因危险评分 (PHS).
- 在EOAD患者,179名LOAD参与者和70名健康对照者之间比较了PHS.
- 在EOAD中分析了PHS与发病年龄和生物标志物的关联.
主要成果:
- 多基因危险评分在早期发病和晚期发病的AD群体之间是可比的.
- 在EOAD患者中,PHS和发病年龄或疾病生物标志物之间没有发现显著的关联.
- EOAD似乎不是由常见的LOAD相关SNP的极端丰富引起的.
结论:
- EOAD的遗传结构与LOAD的遗传结构不同.
- 对LOAD的常见遗传风险因素不能解释EOAD的病因.
- 对EOAD特有的新型遗传风险因素需要进一步调查.
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