No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease

Liddell, M. B., Bayer, Antony James ORCID: https://orcid.org/0000-0002-7514-248X and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 1995. No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease. Human Molecular Genetics 4 (5) , pp. 853-858. 10.1093/hmg/4.5.853

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Abstract

In order to test the hypothesis that allelic variation within the Amyloid Precursor Protein (APP) gene influences susceptibility to common forms of Alzheimer's disease (AD) we screened the entire coding, promoter and 3' untranslated sequences of the APP gene for DNA variations in 30 unrelated patients and eight controls with probable AD by a combination of RT-PCR PCR and chemical cleavage mismatch analysis. Although we were unable to detect commonly occurring allelic variants, we were able to detect a novel mutation within the APP gene in one individual with late-onset AD. This mutation resulted in the substitution of a tryptophan residue for an arginine residue at codon 328 within exon 7 which encodes the so-called protease inhibitor domain of the 751 residue APP isoform. However, the pathological significance of this mutation is uncertain as neither this, nor any other mutation occurring within exon 7 of the APP gene was found in any of a further 102 AD patients and 86 age-matched controls. In conclusion, it is unlikely that susceptibility to AD results from commonly occurring allelic variants of the APP gene and it is even less probable that mutations within exon 7 of the APP gene are important risk factors for late-onset AD.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher:	Oxford University Press
ISSN:	0964-6906
Last Modified:	24 Oct 2022 12:01
URI:	https://orca.cardiff.ac.uk/id/eprint/50099

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