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

Elliott Rees, Dobril Ivanov, George Kirov, Denise Harold (Collaborator), Rebecca Sims (Collaborator), Amy Gerrish (Collaborator), Jade Chapman (Collaborator), Valentina Moskvina (Collaborator), Richard Abraham (Collaborator), Paul Hollingworth (Collaborator), Marian Hamshere (Collaborator), Jaspreet Singh Pahwa (Collaborator), Kimberley Dowzell (Collaborator), Amy Williams (Collaborator), Nicola Jones (Collaborator), Charlene Thomas (Collaborator), Alexandra Stretton (Collaborator), Angharad Morgan (Collaborator), Kate Williams (Collaborator), Sophie Thomas (Collaborator)Simon Lovestone (Collaborator), John Powell (Collaborator), Petroula Proitsi (Collaborator), Michelle K Lupton (Collaborator), Carol Brayne (Collaborator), David C Rubinsztein (Collaborator), Michael Gill (Collaborator), Brian Lawlor (Collaborator), Aoibhinn Lynch (Collaborator), Kevin Morgan (Collaborator), Kristelle Brown (Collaborator), Peter Passmore (Collaborator), David Craig (Collaborator), Bernadette McGuinness (Collaborator), Janet A Johnston (Collaborator), Stephen Todd (Collaborator), Clive Holmes (Collaborator), David Mann (Collaborator), A David Smith (Collaborator), Seth Love (Collaborator), Patrick G Kehoe (Collaborator), John Hardy (Collaborator), Rita Guerreiro (Collaborator), Andrew Singleton (Collaborator), Simon Mead (Collaborator), Nick Fox (Collaborator), Martin Rossor (Collaborator), John Collinge (Collaborator), Wolfgang Maier (Collaborator), Frank Jessen (Collaborator), Reiner Heun (Collaborator), Heike Kölsch (Collaborator), Britta Schürmann (Collaborator), Alfredo Ramirez (Collaborator), Hendrik van den Bussche (Collaborator), Isabella Heuser (Collaborator), Johannes Kornhuber (Collaborator), Jens Wiltfang (Collaborator), Martin Dichgans (Collaborator), Lutz Frölich (Collaborator), Harald Hampel (Collaborator), Michael Hüll (Collaborator), Dan Rujescu (Collaborator), Alison Goate (Collaborator), John S K Kauwe (Collaborator), Carlos Cruchaga (Collaborator), Petra Nowotny (Collaborator), John C Morris (Collaborator), Kevin Mayo (Collaborator), Gill Livingston (Collaborator), Nicholas J Bass (Collaborator), Hugh Gurling (Collaborator), Andrew McQuillin (Collaborator), Rhian Gwilliam (Collaborator), Panagiotis Deloukas (Collaborator), Markus M Nöthen (Collaborator), Peter Holmans (Collaborator), Michael O'Donovan (Collaborator), Michael J Owen (Collaborator), Julie Williams (Collaborator)

    Research output: Contribution to journalArticlepeer-review


    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.
    Original languageEnglish
    Article numberdds476
    Pages (from-to)816-824
    Number of pages8
    JournalHuman Molecular Genetics
    Issue number4
    Publication statusPublished - 15 Feb 2013


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