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

Bahlo, Melanie, Booth, David R., Broadley, Simon A., Brown, Matthew A., Foote, Simon J., Griffiths, Lyn R., Kilpatrick, Trevor J., Lechner-Scott, Jeanette, Moscato, Pablo, Perreau, Victoria M., Rubio, Justin P., Scott, Rodney J., Stankovich, Jim, Stewart, Graeme J., Taylor, Bruce V., Wiley, James, Clarke, Glynnis, Cox, Mathew B., Csurhes, Peter A., Danoy, Patrick, Drysdale, Karen, Field, Judith, Greer, Judith M., Guru, Preethi, Hadler, Johanna, McMorran, Brendan J., Jensen, Cathy J., Johnson, Laura J., McCallum, Ruth, Merriman, Marilyn, Merriman, Tony, Pryce, Karen, Tajouri, Lotfi, Wilkins, Ella J., Browning, Brian L., Browning, Sharon R., Perera, Devindri, Broadley, Simon, Butzkueven, Helmut, Carroll, William M., Chapman, Caron, Kermode, Allan G., Marriott, Mark, Mason, Deborah, Heard, Robert N., Pender, Michael P., Slee, Mark, Tubridy, Niall, & Willoughby, Ernest (2009) Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nature Genetics, 41(7), pp. 824-828.

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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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ID Code: 62638
Item Type: Journal Article
Refereed: Yes
DOI: 10.1038/ng.396
ISSN: 1546-1718
Divisions: Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2009 Nature Publishing Group
Deposited On: 18 Sep 2013 04:19
Last Modified: 18 Nov 2013 00:23

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