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No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer's disease

Lookup NU author(s): Dr Heather Lamb, Alan Leake, Professor Ian McKeith, Emeritus Professor Robert Perry, Dr Christopher Morris


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Mutations in the presenilin-1 (PS-I) gene are believed to be responsible for the majority of familial early-onset Alzheimer's disease (AD). The finding of an intronic polymorphism in the PS-I gene prompted an investigation into its relevance in AD. An association between homozygosity for the most common allele (allele 1) in this intronic polymorphism and late-onset AD has been shown and has been confirmed by others though some studies do not support these findings. We genotyped a large series of sporadic AD cases (n = 120) and age-matched controls (n = 108) for this intronic polymorphism. We then compared both the frequency of allele 1 and allele 1 homozygosity between the AD group as a whole and in early-onset (n = 26) and late-onset (n = 94) groups with age-matched control groups (n = 29 and n = 79, respectively). No increase in the frequency or homozygosity of allele 1 in either the AD group as a whole, or when divided into late-and early-onset cases was found. Increases in the frequency of allele 1 homozygotes and in the number of non-apolipoprotein E epsilon 4 carrying allele 1 homozygotes/heterozygotes was demonstrated in the early-onset AD cases although these values did not reach significance. We conclude that there is no relationship between this intronic polymorphism in the PS-1 gene and AD in the homogenous population genotyped in this study. (C) 1997 Elsevier Science Ireland Ltd.

Publication metadata

Author(s): McKeith IG; Perry RH; Leake A; Morris CM; Lamb H; Singleton AB

Publication type: Article

Publication status: Published

Journal: Neuroscience Letters

Year: 1997

Volume: 234

Issue: 1

Pages: 19-22

Print publication date: 01/09/1997

ISSN (print): 0304-3940

ISSN (electronic): 1872-7972

Publisher: Elsevier Ireland Ltd


DOI: 10.1016/S0304-3940(97)00653-8


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