Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
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Author(s)
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
Foote, Simon J
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
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
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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 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).
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Nature Genetics
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41
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7
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Biological sciences
Biomedical and clinical sciences
Neurology and neuromuscular diseases