Elsevier

Neuroscience Letters

Volume 222, Issue 1, 24 January 1997, Pages 57-60
Neuroscience Letters

An intronic polymorphism in the presenilin-1 gene does not influence the amount or molecular form of the amyloid β protein deposited in Alzheimer's disease

https://doi.org/10.1016/S0304-3940(97)13342-0Get rights and content

Abstract

The frequency of the allele-1 polymorphism in intron 8 of the presenilin-1 (PS-1) gene, and the proportion of individuals homozygous in this respect, was investigated in 57 patients with autopsy verified Alzheimer's disease (AD). In 33 of these patients the amount of amyloid β protein (Aβ) was compared across the three PS-1 genotype groups (1/1, 1/2, 2/2). No excess of the allele-1 was detected in these patients with confirmed AD and no variations in the extent of Aβ deposition, as either Aβ40 or Aβ42, in terms of plaque number or percentage area of tissue occupied, were found. We conclude that this intronic PS-1 polymorphism does not influence the pathological phenotype of AD, at least as far as Aβ deposition is concerned.

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Acknowledgements

We wish to thank Mr. T. Jike for technical assistance, Mrs. M. Barringer for preparation of the manuscript and Mr. D. Houghton for statistical advice. The study was supported in part by a grant from the Wellcome Trust (to A.E.W.).

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