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

Melanie Bahlo, David R. Booth, Simon Broadley, Matthew A. Brown, Simon J. Foote, Lyn R. Griffiths, Trevor J. Kilpatrick, Jeanette Lechner-Scott, Pablo Moscato, Victoria M. Perreau, Justin P. Rubio, Rodney J. Scott, Jim Stankovich, Graeme J. Stewart, Bruce V. Taylor, James Wiley, Glynnis Clarke, Mathew B. Cox, Peter A. Csurhes, Patrick DanoyKaren Drysdale, Judith Field, Judith M. Greer, Preethi Guru, Johanna Hadler, Brendan J. McMorran, Cathy J. Jensen, Laura J. Johnson, Ruth McCallum, Marilyn Merriman, Tony Merriman, Karen Pryce, Lotfi Tajouri, Ella J. Wilkins, Brian L. Browning, Devindri Perera, Devindri Perera, Simon Broadley, Helmut Butzkueven, William M. Carroll, Caron Chapman, Allan G. Kermode, Mark Marriott, Deborah Mason, Robert N. Heard, Michael P. Pender, Mark Slee, Niall Tubridy, Ernest Willoughby

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413 Citations (Scopus)

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 × 10 11; rs10876994, P = 2.7 × 10 10; rs12368653, P = 1.0 × 10 7) and upstream of CD40 on chromosome 20q13 (rs6074022, P = 1.3 × 10 7; rs1569723, P = 2.9 × 10 7). Both loci are also associated with other autoimmune diseases. We also replicated several known MS associations (HLA-DR15, P = 7.0 × 10 184; CD58, P = 9.6 × 10 8; EVI5-RPL5, P = 2.5 × 10 6; IL2RA, P = 7.4 × 10 6; CLEC16A, P = 1.1 × 10 4; IL7R, P = 1.3 × 10 3; TYK2, P = 3.5 × 10 3) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001).

Original languageEnglish
Pages (from-to)824-828
Number of pages5
JournalNature Genetics
Volume41
Issue number7
DOIs
Publication statusPublished - 1 Jul 2009
Externally publishedYes

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    Bahlo, M., Booth, D. R., Broadley, S., Brown, M. A., Foote, S. J., Griffiths, L. R., ... Willoughby, E. (2009). Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nature Genetics, 41(7), 824-828. https://doi.org/10.1038/ng.396