APH-1a基因启动子区多态性与阿尔茨海默病临床特征的关系

The study on the relationship between APH-- la polymorphism and clinical features of Alzheimer＇s disease

目的探讨散发性阿尔茨海默病（SAD）认知功能障碍的临床特征与前咽缺陷因子1A（APH—la）基因多态性的关系。方法收集AD患者250例，正常对照者250例，采用简易精神状态检查（MMSE）及画钟测验（CDT）进行认知功能测评。结果携带APH—la一980GG，GC，CC不同基因型的AD患者，发病年龄和MMSE评分差异均有统计学意义（P〈0．05），其中GG基因型患者发病年龄最早，MMSE评分最低，在APOEε4（＋）患者，这趋势更加明显。而携带GG，GC，CC不同基因型的SAD患者，CDT评分差异无统计学意义（P〉0．05）。在携带GG，GC，CC不同基因型的正常对照人群中，MMSE评分及CDT评分差异均无统计学意义（P〉0．05），但是APOE基因型分层后，不同基因型正常人群的MMSE评分差异有统计学意义（P〈0．01），GG基因型的MMSE评分最低；CDT评分差异仍无统计学意义（P〉0．05）。结论APH-1a-980C／G基因多态性可能通过影响患者发病年龄与认知功能，从而参与AD的发病。

Objective To study the relationship between APH--la polymorphism and Clinical fea- tures of sporadic Alzheimer＇s disease （SAD）. Methods We recruited 250 SAD patients and 250 healthy controls in Chinese Han population. Mini--mental state examination （MMSE）and clock drawing test （CDT）were used to evaluate cognitive function. The statistical analysis was performed by using SPSS 16.0. Results The average age at onset of SAD and MMSE scores were significant different among sub- jects with GG, GC, CC genotype. The subjects with GG genotype had the earliest average age at onset and the lowest MMSE score. After stratified by APOEε4, the differences were more obvious. The CDT scores among subjects with GG, GC, CC genotype were also analyzed and the difference of the CDT scores among these different groups had no significance. Conclusions The APH-la-980C/G polymor- phism may affect onset of age and cognitive function, therefore contribute to risk for AD.