Lee Joseph H, Mayeux Richard
Department of Neurology, Columbia University, NY, USA.
Psychopharmacol Bull. 2007;40(4):132-44.
How useful is genetics to a clinician who treats patients with Alzheimer's disease (AD)? Even though much has been learned about the genetics of AD, given the current state of knowledge, the application of genetics to clinical practice is limited. Three genes (amyloid precursor protein [APP], presenilin 1, and presenilin 2) are primarily responsible for only part of early-onset AD, and the apolipoprotein E (APOE) gene elevates risk but does not confer risk deterministically. In addition, several candidate chromosomal regions are being investigated now. To accurately determine genetic profile so that it can be used in a clinical setting as a screening or diagnostic tool, much research is needed.
对于治疗阿尔茨海默病（AD）患者的临床医生而言，遗传学有多大用处？尽管人们对AD的遗传学已经有了很多了解，但就目前的知识水平而言，遗传学在临床实践中的应用仍然有限。三个基因（淀粉样前体蛋白[APP]、早老素1和早老素2）仅主要导致部分早发性AD，而载脂蛋白E（APOE）基因会增加患病风险，但并不能确定性地赋予风险。此外，目前正在对几个候选染色体区域进行研究。为了准确确定基因图谱以便将其用作临床环境中的筛查或诊断工具，还需要进行大量研究。
