Genetic discoveries in AD using CSF amyloid and tau.
Genetic discoveries in AD using CSF amyloid and tau.
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DOI：
10.1007/s40142-014-0031-0
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发表时间：
2014-03-01
影响因子：
2.1
通讯作者：
Kauwe JS
中科院分区：
文献类型：
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作者：
Cruchaga C;Ebbert MT;Kauwe JS
使用脑脊液 Aβ42 和 pTau181 水平作为阿尔茨海默病 (AD) 遗传研究的内表型，成功鉴定了罕见和常见的 AD 风险变异。此外，这种方法还为已知的 AD 风险变异调节疾病过程的生物学机制提供了有意义的假设。在本文中，我们讨论了这些成功，并概述了有效和持续应用此方法所面临的挑战。我们将这种方法的统计能力与传统的病例对照设计进行对比，并讨论解决这些表型的质量控制和数据分析挑战的解决方案。最后，我们讨论了在更大的样本中使用这种方法的潜力，以及结合下一代测序以及未来与 AD 的其他内表型合作的潜力。
The use of cerebrospinal fluid levels of Aβ42 and pTau181 as endophenotypes for genetic studies of Alzheimer's disease (AD) has led to successful identification of both rare and common AD risk variants. In addition, this approach has provided meaningful hypotheses for the biological mechanisms by which known AD risk variants modulate the disease process. In this article we discuss these successes and outline challenges to effective and continued applications of this approach. We contrast the statistical power of this approach with traditional case-control designs and discuss solutions to address challenges in quality control and data analysis for these phenotypes. Finally, we discuss the potential for the use of this approach with larger samples as well as the incorporation of next generation sequencing and for future work with other endophenotypes for AD.