Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
AuthorBahlo, M; Booth, DR; Broadley, SA; Brown, MA; Foote, SJ; Griffiths, LR; Kilpatrick, TJ; Lechner-Scott, J; Moscato, P; Perreau, VM; ...
Source TitleNATURE GENETICS
PublisherNATURE PUBLISHING GROUP
University of Melbourne Author/sFOOTE, SIMON; Kilpatrick, Trevor; Perreau, Victoria; Rubio, Justin; Field, Judith; Butzkueven, Helmut; MARRIOTT, MARK; WILKINS, ELLA; Wiley, James; Bahlo, Melanie
AffiliationMedicine, Dentistry & Health Sciences
Florey Department of Neuroscience and Mental Health
Melbourne Medical School
Education Unit, MDHS
School of Biomedical Sciences
Anatomy and Neuroscience
Centre for Neuroscience
Document TypeJournal Article
CitationsBahlo, 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 StatusThis item is currently not available from this repository
ARC Grant codeARC/LP0776744
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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