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Alzheimer's disease genetics: current knowledge and future challenges

Hollingworth, Paul, Harold, Denise ORCID: https://orcid.org/0000-0001-5195-0143, Jones, Lesley ORCID: https://orcid.org/0000-0002-3007-4612, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259 2010. Alzheimer's disease genetics: current knowledge and future challenges. International Journal of Geriatric Psychiatry 26 (8) , pp. 793-802. 10.1002/gps.2628

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Abstract

Alzheimer's disease (AD) is highly heritable, but genetically complex. Recently, three large-scale genome-wide association studies have made substantial breakthroughs in disentangling the genetic architecture of the disease. These studies combined include data from over 43 000 independent individuals and provide compelling evidence that variants in four novel susceptibility genes (CLU, PICALM, CR1, BIN1) are associated with disease risk. These findings are tremendously exciting, not only in providing new avenues for exploration, but also highlighting the potential for further gene discovery when larger samples are analysed. Here we discuss progress to date in identifying risk genes for dementia, ways forward and how current findings are refining previous ideas and defining new putative primary disease mechanisms.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Medicine
Systems Immunity Research Institute (SIURI)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: Alzheimer's disease; genetics; Genome wide association study; BIN1; PICALM; CLU; CR1; APOE
Publisher: John Wiley & Sons Ltd.
ISSN: 0885-6230
Last Modified: 04 Mar 2023 02:55
URI: https://orca.cardiff.ac.uk/id/eprint/22670

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