@article{d3dacc0e09e94b80b8457bb5d6dc141e,
title = "Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20",
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(1-5). 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).",
keywords = "RHEUMATOID-ARTHRITIS, DIAGNOSTIC-CRITERIA, CD40, POLYMORPHISM, GUIDELINES, INDUCTION, INFERENCE, ANTIBODY, MODELS, LIGAND",
author = "{Australia & New Zealand Multiple S} and Melanie Bahlo and Booth, {David R.} and Broadley, {Simon A.} and Brown, {Matthew A.} and Foote, {Simon J.} and Griffiths, {Lyn R.} and Kilpatrick, {Trevor J.} and Jeanette Lechner-Scott and Pablo Moscato and Perreau, {Victoria M.} and Rubio, {Justin P.} and Scott, {Rodney J.} and Jim Stankovich and Stewart, {Graeme J.} and Taylor, {Bruce V.} and James Wiley and Glynnis Clarke and Cox, {Mathew B.} and Csurhes, {Peter A.} and Patrick Danoy and Karen Drysdale and Judith Field and Foote, {Simon J.} and Greer, {Judith M.} and Preethi Guru and Johanna Hadler and McMorran, {Brendan J.} and Jensen, {Cathy J.} and Johnson, {Laura J.} and Ruth McCallum and Marilyn Merriman and Tony Merriman and Karen Pryce and Lotfi Tajouri and Wilkins, {Ella J.} and Browning, {Brian L.} and Browning, {Sharon R.} and Devindri Perera and Helmut Butzkueven and Carroll, {William M.} and Caron Chapman and Kermode, {Allan G.} and Mark Marriott and Deborah Mason and Heard, {Robert N.} and Pender, {Michael P.} and Mark Slee and Niall Tubridy and Ernest Willoughby",
year = "2009",
month = jul,
doi = "10.1038/ng.396",
language = "English",
volume = "41",
pages = "824--U84",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group - Macmillan Publishers",
number = "7",
}