Letter abstract
Nature Genetics 41, 824 - 828 (2009)
Published online: 14 June 2009 | doi:10.1038/ng.396
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
The Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)1
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 diseases1, 2, 3, 4, 5. 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).
- A complete list of authors and affiliations is provided at the end of the article.
- The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
- The Westmead Millenium Institute, Westmead, New South Wales, Australia.
- School of Medicine, Griffith University, Queensland, Australia.
- Department of Neurology, Gold Coast Hospital, Queensland, Australia.
- Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, University of Queensland, Brisbane, Queensland, Australia.
- Botnar Research Centre, Nuffield Department of Orthopaedic Surgery, University of Oxford, Oxford, UK.
- Menzies Research Institute, University of Tasmania, Hobart, Tasmania.
- Genomics Research Centre, Griffith University, Queensland, Australia.
- Centre for Neuroscience, University of Melbourne, Victoria, Australia.
- The Howard Florey Institute, University of Melbourne, Victoria, Australia.
- Royal Melbourne Hospital, Parkville, Victoria, Australia.
- John Hunter Hospital, Hunter New England Health Service, Newcastle, New South Wales, Australia.
- Hunter Medical Research Institute, Newcastle, New South Wales, Australia.
- Centre for Bioinformatics, Biomarker Discovery and Information-based Medicine, University of Newcastle, New South Wales, Australia.
- Department of Medicine, Nepean Hospital, Penrith, New South Wales, Australia.
- Christchurch School of Medicine & Health Sciences, University of Otago, New Zealand.
- UQ Centre for Clinical Research, University of Queensland, Queensland, Australia.
- Department of Biochemistry, University of Otago, Dunedin, New Zealand.
- Department of Statistics, The University of Auckland, Auckland, New Zealand.
- Department of Neurology, Box Hill Hospital, Victoria, Australia.
- Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
- Australian Neuromuscular Research Institute, Nedlands, West Australia, Australia.
- Barwon Health, Geelong, Victoria, Australia.
- Canterbury District Health Board, Christchurch, New Zealand.
- School of Medicine, University of Queensland, Queensland, Australia.
- Department of Neurology, Royal Brisbane and Women's Hospital, Queensland, Australia.
- School of Medicine, Department of Neurology, Flinders University, Bedford Park, Adelaide, South Australia, Australia.
- Department of Neurology, St. Vincent's University Hospital, Dublin, Republic of Ireland.
- Auckland District Health board, Auckland, New Zealand.
Correspondence to: e-mail: justin.rubio@florey.edu.au
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