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

Wilcock, Gordon K.; Palmgren, Juni; de Faire, Ulf; Brookes, Anthony J.; Pedersen, Nancy L.; Blennow, Kaj; Prince, Jonathan A.; Katzov, Hagit; Gatz, Maragaret; Andreasen, Niels; Cairns, Nigel J.; Kehoe, Patrick G.

Authors

Gordon K. Wilcock

Juni Palmgren

Ulf de Faire

Anthony J. Brookes

Nancy L. Pedersen

Kaj Blennow

Jonathan A. Prince

Hagit Katzov

Maragaret Gatz

Niels Andreasen

Nigel J. Cairns

Patrick G. Kehoe



Abstract

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 E4 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

Citation

Prince, J. A., Blennow, K., Pedersen, N. L., Brookes, A. J., de Faire, U., Palmgren, J., …Kehoe, P. G. (2004). Common variants of ACE contribute to variable age-at-onset of Alzheimer's disease. Human Genetics, 114(5), 478-483. https://doi.org/10.1007/s00439-004-1093-y

Journal Article Type Article
Publication Date Apr 1, 2004
Journal Human Genetics
Print ISSN 0340-6717
Publisher Springer (part of Springer Nature)
Peer Reviewed Not Peer Reviewed
Volume 114
Issue 5
Pages 478-483
DOI https://doi.org/10.1007/s00439-004-1093-y
Keywords ACE, variable age-at-onsetc Alzheimer's disease
Public URL https://uwe-repository.worktribe.com/output/1061212
Publisher URL http://dx.doi.org/10.1007/s00439-004-1093-y


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