Lookup NU author(s): Dr Heather Lamb,
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.
Author(s): McKeith IG; Perry RH; Leake A; Morris CM; Lamb H; Singleton AB
Publication type: Article
Publication status: Published
Journal: Neuroscience Letters
Print publication date: 01/09/1997
ISSN (print): 0304-3940
ISSN (electronic): 1872-7972
Publisher: Elsevier Ireland Ltd
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