早发性阿尔茨海默病患者中，西班牙人群早老素-1基因多态性2/2基因型比例降低。

The genotype 2/2 of the presenilin-1 polymorphism is decreased in Spanish early-onset Alzheimer's disease.

作者信息

Ezquerra M, Blesa R, Tolosa E, Lopez Pousa S, Aguilar M, Peña J, Van Broeckhoven C, Ballesta F, Oliva R

机构信息

Genetics Service, Hospital Clinic i Provincial and Institut August Pi i Sunyer, Barcelona, Spain.

出版信息

Neurosci Lett. 1997 May 23;227(3):201-4. doi: 10.1016/s0304-3940(97)00328-5.

DOI:10.1016/s0304-3940(97)00328-5

PMID:9185685

Abstract

We have found a significantly lower frequency of the presenilin-1 (PS-1) intronic polymorphism 2/2 genotype in early-onset Alzheimer's disease (AD) patients without APOE epsilon4 alleles (2/2 = 0.054; P = 0.009) as compared to age matched non-epsilon4 controls (2/2 = 0.227). Moreover the average age of onset in AD patients with the PS-1 2/2 genotype is older than that in AD patients with a 1/2 genotype or with a 1/1 genotype. This data suggest a protective effect of the 2/2 genotype which would delay the age of onset in AD. Our results do not support an association between the 1/1 genotype and AD. However, a non-significant increase of the 1/1 genotype is found in non-epsilon4 AD patients (P = 0.20).

摘要

我们发现，与年龄匹配的非ε4等位基因对照者（2/2基因型频率 = 0.227）相比，无APOE ε4等位基因的早发性阿尔茨海默病（AD）患者中早老素-1（PS-1）内含子多态性2/2基因型的频率显著更低（2/2基因型频率 = 0.054；P = 0.009）。此外，PS-1 2/2基因型AD患者的平均发病年龄比1/2基因型或1/1基因型的AD患者更大。该数据提示2/2基因型具有保护作用，可延迟AD的发病年龄。我们的结果不支持1/1基因型与AD之间存在关联。然而，在非ε4 AD患者中发现1/1基因型有非显著性增加（P = 0.20）。