Title |
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
|
---|---|
Published in |
Nature Genetics, June 2009
|
DOI | 10.1038/ng.396 |
Pubmed ID | |
Authors |
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, Matthew A Brown, David R Booth, Glynnis Clarke, Mathew B Cox, Peter A Csurhes, Patrick Danoy, Karen Drysdale, Judith Field, Simon J Foote, Judith M Greer, Lyn R Griffiths, Preethi Guru, Johanna Hadler, Brendan J McMorran, Cathy J Jensen, Laura J Johnson, Ruth McCallum, Marilyn Merriman, Tony Merriman, Karen Pryce, Rodney J Scott, Graeme J Stewart, Lotfi Tajouri, Ella J Wilkins, Justin P Rubio, Melanie Bahlo, Matthew A Brown, Brian L Browning, Sharon R Browning, Devindri Perera, Justin P Rubio, Jim Stankovich, 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, Jeanette Lechner-Scott, Bruce V Taylor, Ernest Willoughby, Trevor J Kilpatrick |
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 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). |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | <1% |
Australia | 2 | <1% |
Spain | 2 | <1% |
Cuba | 1 | <1% |
Sweden | 1 | <1% |
Canada | 1 | <1% |
Italy | 1 | <1% |
United Kingdom | 1 | <1% |
New Zealand | 1 | <1% |
Other | 0 | 0% |
Unknown | 281 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 58 | 20% |
Student > Ph. D. Student | 54 | 18% |
Student > Bachelor | 36 | 12% |
Student > Master | 22 | 8% |
Student > Doctoral Student | 17 | 6% |
Other | 65 | 22% |
Unknown | 41 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 69 | 24% |
Medicine and Dentistry | 61 | 21% |
Biochemistry, Genetics and Molecular Biology | 41 | 14% |
Immunology and Microbiology | 15 | 5% |
Neuroscience | 15 | 5% |
Other | 44 | 15% |
Unknown | 48 | 16% |