Genotype and phenotype in Alzheimer's disease
Genotype and phenotype in Alzheimer's disease
Background: patients with Alzheimer's disease show a wide variation in clinical phenotype. Genetic research has been largely concerned with the role of mutations or common variants as risk factors for the disease. Do genetic factors also influence clinical phenotype?
Aims: to examine the evidence that genetic factors influence the clinical expression of the disease in addition to influencing risk.
Method: a selective review was made of the key literature.
Results: mutations in three genes, coding for amyloid precursor protein, presenilin-1 and presenilin-2, and a common variation ({epsilon}4) in another gene, APOE, have been shown to lead to an earlier development of the disease. More recently, genetic association and twin studies have suggested a role for genetic factors in the development of other aspects of clinical phenotype, notably the appearance of non-cognitive symptoms.
Conclusions: in Alzheimer's disease genetic variation influences a number of aspects of clinical phenotype.
131-134
Holmes, Clive
ada5abf3-8459-4cf7-be40-3f4e9391cc96
2002
Holmes, Clive
ada5abf3-8459-4cf7-be40-3f4e9391cc96
Holmes, Clive
(2002)
Genotype and phenotype in Alzheimer's disease.
British Journal of Psychiatry, 180, .
Abstract
Background: patients with Alzheimer's disease show a wide variation in clinical phenotype. Genetic research has been largely concerned with the role of mutations or common variants as risk factors for the disease. Do genetic factors also influence clinical phenotype?
Aims: to examine the evidence that genetic factors influence the clinical expression of the disease in addition to influencing risk.
Method: a selective review was made of the key literature.
Results: mutations in three genes, coding for amyloid precursor protein, presenilin-1 and presenilin-2, and a common variation ({epsilon}4) in another gene, APOE, have been shown to lead to an earlier development of the disease. More recently, genetic association and twin studies have suggested a role for genetic factors in the development of other aspects of clinical phenotype, notably the appearance of non-cognitive symptoms.
Conclusions: in Alzheimer's disease genetic variation influences a number of aspects of clinical phenotype.
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Published date: 2002
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Local EPrints ID: 27594
URI: http://eprints.soton.ac.uk/id/eprint/27594
ISSN: 0007-1250
PURE UUID: a7024cb8-442e-4bab-8011-5fcfa03cc3be
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Date deposited: 25 Apr 2006
Last modified: 08 Jan 2022 02:50
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