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A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk

Chapman, J., Rees, Elliott ORCID:, Harold, Denise, Ivanov, Dobril ORCID:, Gerrish, Amy, Sims, Rebecca ORCID:, Hollingworth, P, Stretton, A., Holmans, Peter Alan ORCID:, Owen, Michael John ORCID:, O'Donovan, Michael Conlon ORCID:, Williams, Julie ORCID: and Kirov, George ORCID: 2013. A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk. Human Molecular Genetics 22 (4) , pp. 816-824. 10.1093/hmg/dds476

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We assessed the role of rare copy number variants (CNVs) in Alzheimer's disease (AD) using intensity data from 3260 AD cases and 1290 age-matched controls from the genome-wide association study (GWAS) conducted by the Genetic and Environmental Risk for Alzheimer's disease Consortium (GERAD). We did not observe a significant excess of rare CNVs in cases, although we did identify duplications overlapping APP and CR1 which may be pathogenic. We looked for an excess of CNVs in loci which have been highlighted in previous AD CNV studies, but did not replicate previous findings. Through pathway analyses, we observed suggestive evidence for biological overlap between single nucleotide polymorphisms and CNVs in AD susceptibility. We also identified that our sample of elderly controls harbours significantly fewer deletions >1 Mb than younger control sets in previous CNV studies on schizophrenia and bipolar disorder (P = 8.9 × 10-4 and 0.024, respectively), raising the possibility that healthy elderly individuals have a reduced rate of large deletions. Thus, in contrast to diseases such as schizophrenia, autism and attention deficit/hyperactivity disorder, CNVs do not appear to make a significant contribution to the development of AD.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Systems Immunity Research Institute (SIURI)
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
R Medicine > RZ Other systems of medicine
Uncontrolled Keywords: Aged; Alzheimer Disease; Amyloid beta-Protein Precursor; Case-Control Studies; DNA Copy Number Variations; Gene Duplication; Genetic Loci; Genetic Predisposition to Disease; Genome, Human; Genome-Wide Association Study; Genotype; Humans; Polymorphism, Single Nucleotide; Receptors, Complement 3b; Risk Factors
Publisher: Oxford University Press
ISSN: 0964-6906
Date of Acceptance: 31 October 2012
Last Modified: 05 Jan 2024 04:43

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