Journal article

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

Melanie Bahlo, David R Booth, Simon A 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 Danoy Show all



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 ..

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Funding Acknowledgements

We thank individuals with MS in Australia and New Zealand for supporting this research. We are grateful to M. Tanner for database management and J. Wright and C. Remediakis from Multiple Sclerosis Research Australia (MSRA) for expediting this research. J. P. R. and M. B. are supported by Career Development Awards from The National Health and Medical Research Council of Australia (NHMRC). M. A. B. is an NHMRC Principal Research Fellow. H. B. is an NHMRC Peter Doherty Postdoctoral Fellow. J. F. is an MSRA Post-doctoral Fellow. M. B. C. is supported by a grant from the John Hunter Hospital Charitable Trust Fund and a special grant from Macquarie Bank. Replication genotyping was conducted at the Murdoch