Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

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    Author
    Bahlo, M; Booth, DR; Broadley, SA; Brown, MA; Foote, SJ; Griffiths, LR; Kilpatrick, TJ; Lechner-Scott, J; Moscato, P; Perreau, VM; ...
    Date
    2009-07-01
    Source Title
    NATURE GENETICS
    Publisher
    NATURE PUBLISHING GROUP
    University of Melbourne Author/s
    FOOTE, SIMON; Kilpatrick, Trevor; Perreau, Victoria; Rubio, Justin; Field, Judith; Butzkueven, Helmut; MARRIOTT, MARK; WILKINS, ELLA; Wiley, James; Bahlo, Melanie
    Affiliation
    Medicine, Dentistry & Health Sciences
    Florey Department of Neuroscience and Mental Health
    Melbourne Medical School
    Education Unit, MDHS
    Radiology
    Medicine (RMH)
    School of Biomedical Sciences
    Anatomy and Neuroscience
    Centre for Neuroscience
    Pathology
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    Document Type
    Journal Article
    Citations
    Bahlo, M., Booth, D. R., Broadley, S. A., Brown, M. A., Foote, S. J., Griffiths, L. R., Kilpatrick, T. J., Lechner-Scott, J., Moscato, P., Perreau, V. M., Rubio, J. P., Scott, R. J., Stankovich, J., Stewart, G. J., Taylor, B. V., Wiley, J., Clarke, G., Cox, M. B., Csurhes, P. A. ,... Willoughby, E. (2009). Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. NATURE GENETICS, 41 (7), pp.824-U84. https://doi.org/10.1038/ng.396.
    Access Status
    This item is currently not available from this repository
    URI
    http://hdl.handle.net/11343/59099
    DOI
    10.1038/ng.396
    ARC Grant code
    ARC/LP0776744
    Abstract
    To identify multiple sclerosis (MS) susceptibility loci, we conducted a genome-wide association study (GWAS) in 1,618 cases and used shared data for 3,413 controls. We performed replication in an independent set of 2,256 cases and 2,310 controls, for a total of 3,874 cases and 5,723 controls. We identified risk-associated SNPs on chromosome 12q13-14 (rs703842, P = 5.4 x 10(-11); rs10876994, P = 2.7 x 10(-10); rs12368653, P = 1.0 x 10(-7)) and upstream of CD40 on chromosome 20q13 (rs6074022, P = 1.3 x 10(-7); rs1569723, P = 2.9 x 10(-7)). Both loci are also associated with other autoimmune diseases. We also replicated several known MS associations (HLA-DR15, P = 7.0 x 10(-184); CD58, P = 9.6 x 10(-8); EVI5-RPL5, P = 2.5 x 10(-6); IL2RA, P = 7.4 x 10(-6); CLEC16A, P = 1.1 x 10(-4); IL7R, P = 1.3 x 10(-3); TYK2, P = 3.5 x 10(-3)) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001).

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