PMID: 9185685May 23, 1997Paper

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

Neuroscience Letters
M EzquerraR Oliva

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).

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Citations

Dec 3, 1999·Journal of the Neurological Sciences·O CombarrosA Carvajal
May 18, 1999·Journal of Neurology, Neurosurgery, and Psychiatry·M YasudaC Tanaka
Aug 17, 2004·Neuroscience Letters·Paola LucarelliPaolo Curatolo
Aug 28, 2007·Brain Research·Miguel Rodríguez-ManotasJuan Cabezas-Herrera
Aug 22, 2000·American Journal of Medical Genetics·M B PetersenM Mikkelsen

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