Curtin University Homepage
  • Library
  • Help
    • Admin

    espace - Curtin’s institutional repository

    JavaScript is disabled for your browser. Some features of this site may not work without it.
    View Item 
    • espace Home
    • espace
    • Curtin Research Publications
    • View Item
    • espace Home
    • espace
    • Curtin Research Publications
    • View Item

    Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

    Access Status
    Open access via publisher
    Authors
    Mead, S.
    Uphill, J.
    Beck, J.
    Poulter, M.
    Campbell, T.
    Lowe, J.
    Adamson, G.
    Hummerich, H.
    Klopp, N.
    Ruckert, I.
    Wichmann, H.
    Azazu, D.
    Plagnol, V.
    Pako, W.
    Whitfield, J.
    Alpers, Michael Philip
    Whittaker, J.
    Balding, D.
    Zerr, I.
    Kretzschmar, H.
    Collinge, J.
    Date
    2012
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Mead, S. and Uphill, J. and Beck, J. and Poulter, M. and Campbell, T. and Lowe, J. and Adamson, G. et al. 2012. Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. Human Molecular Genetics. 21 (8): pp. 1897-1906.
    Source Title
    Human Molecular Genetics
    DOI
    10.1093/hmg/ddr607
    ISSN
    0964-6906
    School
    Centre for International Health
    URI
    http://hdl.handle.net/20.500.11937/47719
    Collection
    • Curtin Research Publications
    Abstract

    Prion diseases are fatal neurodegenerative diseases of humans and animals caused by the misfolding and aggregation of prion protein (PrP). Mammalian prion diseases are under strong genetic control but few risk factors are known aside from the PrP gene locus (PRNP). No genome-wide association study (GWAS) has been done aside from a small sample of variant Creutzfeldt–Jakob disease (CJD). We conducted GWAS of sporadic CJD (sCJD), variant CJD (vCJD), iatrogenic CJD, inherited prion disease, kuru and resistance to kuru despite attendance at mortuary feasts. After quality control, we analysed 2000 samples and 6015 control individuals (provided by the Wellcome Trust Case Control Consortium and KORA-gen) for 491032- 511862 SNPs in the European study. Association studies were done in each geographical and aetiological group followed by several combined analyses. The PRNP locus was highly associated with risk in all geographical and aetiological groups. This association was driven by the known coding variation at rs1799990 (PRNP codon 129). No non-PRNP loci achieved genome-wide significance in the meta-analysis of all human prion disease.

    Related items

    Showing items related by title, author, creator and subject.

    • FTIR studies of the similarities between pathology induced protein aggregation in vivo and chemically induced protein aggregation ex vivo
      Tidy, R.; Lam, V.; Fimognari, N.; Mamo, John; Hackett, M. (2016)
      © 2016 Elsevier B.V.Fourier transform infrared (FTIR) spectroscopy has been well documented to discriminate between protein secondary structures, at the micron scale. This capability has enabled in situ localization of ...
    • HECTD2 is associated with susceptibility to mouse and human prion disease
      Lloyd, S.; Maytham, E.; Pota, H.; Grizenkova, J.; Molou, E.; Uphill, J.; Hummerich, H.; Whitfield, J.; Alpers, Michael Philip; Mead, S.; Collinge, J. (2009)
      Prion diseases are fatal transmissible neurodegenerative disorders, which include Scrapie, Bovine Spongiform Encephalopathy (BSE), Creutzfeldt-Jakob Disease (CJD), and kuru. They are characterised by a prolonged clinically ...
    • Mining substructures in protein data
      Hadzic, Fedja; Dillon, Tharam S.; Sidhu, Amandeep; Chang, Elizabeth; Tan, H. (2006)
      In this paper we consider the 'Prions' database that describes protein instances stored for Human Prion Proteins. The Prions database can be viewed as a database of rooted ordered labeled subtrees. Mining frequent ...
    Advanced search

    Browse

    Communities & CollectionsIssue DateAuthorTitleSubjectDocument TypeThis CollectionIssue DateAuthorTitleSubjectDocument Type

    My Account

    Admin

    Statistics

    Most Popular ItemsStatistics by CountryMost Popular Authors

    Follow Curtin

    • 
    • 
    • 
    • 
    • 

    CRICOS Provider Code: 00301JABN: 99 143 842 569TEQSA: PRV12158

    Copyright | Disclaimer | Privacy statement | Accessibility

    Curtin would like to pay respect to the Aboriginal and Torres Strait Islander members of our community by acknowledging the traditional owners of the land on which the Perth campus is located, the Whadjuk people of the Nyungar Nation; and on our Kalgoorlie campus, the Wongutha people of the North-Eastern Goldfields.