Common variants of ACE contribute to variable age-at-onset of Alzheimer's disease

Studies on the role that genetic variation may play in a complex human disease can be empowered by an assessment of both disease risk in case-control or family models and of quantitative traits that reflect elements of disease etiology. An excellent example of this can be found for the epsilon4 alle...

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Bibliographic Details
Published in:Human genetics 2004-04, Vol.114 (5), p.478-483
Main Authors: KEHOE, Patrick G, KATZOV, Hagit, BLENNOW, Kaj, PRINCE, Jonathan A, ANDREASEN, Niels, GATZ, Maragaret, WILCOCK, Gordon K, CAIRNS, Nigel J, PALMGREN, Juni, DE FAIRE, Ulf, BROOKES, Anthony J, PEDERSEN, Nancy L
Format: Article
Language:English
Subjects:
Advertising executives
Age of Onset
allele
Alleles
Alzheimer Disease - genetics
Alzheimer's disease
Analysis
Analysis of Variance
Angiotensin
Angiotensin converting enzyme
Apolipoproteins
association
Biological and medical sciences
Case-Control Studies
Classical genetics, quantitative genetics, hybrids
converting-enzyme gene
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
dementia
Development and progression
disequilibrium
Fundamental and applied biological sciences. Psychology
Genetic Testing
Genetic Variation
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Genetik
Human
Humans
Infection control
linkage
Medical sciences
molecular pathology
Neurology
Peptidyl-Dipeptidase A - genetics
Polymorphism, Single Nucleotide - genetics
presenilins
risk
Single nucleotide polymorphisms
susceptibility
Sweden
United Kingdom
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Summary:Studies on the role that genetic variation may play in a complex human disease can be empowered by an assessment of both disease risk in case-control or family models and of quantitative traits that reflect elements of disease etiology. An excellent example of this can be found for the epsilon4 allele of APOE in relation to Alzheimer's disease (AD) for which association with both risk and age-at-onset (AAO) is evident. Following a recent demonstration that variants of the gene encoding angiotensin I converting enzyme ( ACE) contribute to AD risk, we have explored the potential influence of ACE upon AAO in AD. A total of 2861 individuals from three European populations, including six independent AD samples, have been examined in this study. Three single nucleotide polymorphisms (SNPs) previously demonstrated to have maximum effects upon ACE plasma levels and that span the ACE locus were genotyped in these materials. A strong effect upon AAO was observed for marker rs4343 in exon 17 ( P
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-004-1093-y