阿尔茨海默病：遗传多态性与衰退速度。
Alzheimer's disease: genetic polymorphisms and rate of decline.
机构信息
Department of Neurology, Georg August University Hospital, Robert-Koch-Strasse 40, Goettingen, Germany.
出版信息
Dement Geriatr Cogn Disord. 2012;33(2-3):84-9. doi: 10.1159/000336790. Epub 2012 Mar 9.
BACKGROUND/AIM: To investigate the influence of established genetic risk factors for Alzheimer's disease on the speed of disease progression.
METHODS
Polymorphisms (in ACE, ApoE, BIN1, CLU, CR1, CST3, EXOC3L2, GWA14q32.13, IL8, LDLR, PICALM, TNK1) of 40 Alzheimer's disease patients from a longitudinal study were analyzed. A standardized loss of Mini-Mental State Examination points was used as the progression parameter.
RESULTS
Polymorphisms in CST3 and EXOC3L2 as well as the absence of APOE4 were associated with more aggressive disease courses. A trend was observed for BIN1.
CONCLUSION
In addition to being a risk factor for disease development, some of the polymorphisms investigated here are associated with higher rates of decline and disease progression and thus might act as prognostic disease markers. This effect needs to be considered in future treatment strategies.
背景/目的：探讨阿尔茨海默病已确定遗传风险因素对疾病进展速度的影响。
方法
对来自纵向研究的 40 名阿尔茨海默病患者的多态性（ACE、ApoE、BIN1、CLU、CR1、CST3、EXOC3L2、GWA14q32.13、IL8、LDLR、PICALM、TNK1）进行了分析。标准化的 Mini-Mental State Examination 点损失被用作进展参数。
结果
CST3 和 EXOC3L2 的多态性以及 APOE4 的缺失与更具侵袭性的疾病过程相关。BIN1 呈趋势相关。
结论
除了是疾病发展的危险因素外，这里研究的一些多态性与更高的下降率和疾病进展相关，因此可能作为预后疾病标志物。在未来的治疗策略中需要考虑到这种影响。
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