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

被引：20

作者：

Ezquerra, M

Blesa, R

Tolosa, E

Pousa, SL

Aguilar, M

Pena, J

Van Broeckhoven, C

Ballesta, F

Oliva, R

机构：

[1] INST AUGUST PI SUNYER, BARCELONA 08036, SPAIN

[2] HOSP CLIN BARCELONA, NEUROL SERV, BARCELONA 08036, SPAIN

[3] HOSP SANTA CATERINA, DEMENTIA ASSESSMENT UNIT, GIRONA, SPAIN

[4] HOSP MUTUA TERRASA, TERRASSA, SPAIN

[5] UNIV AUTONOMA BARCELONA, HOSP MAR, DEPT MED, E-08003 BARCELONA, SPAIN

[6] UNIV INSTELLING ANTWERP VIB, BORN BUNGE FDN, NEUROGENET LAB, ANTWERP, BELGIUM

来源：

NEUROSCIENCE LETTERS | 1997年 / 227卷 / 03期

关键词：

presenilin-1; Alzheimer's disease; apolipoprotein E; polymorphism; genes;

D O I：

10.1016/S0304-3940(97)00328-5

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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 epsilon 4 alleles (2/2 = 0.054; P = 0.009) as compared to age matched non-epsilon 4 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-epsilon 4 AD patients (P = 0.20). (C) 1997 Elsevier Science Ireland Ltd.

引用

页码：201 / 204

页数：4

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