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

Bahlo, Melanie, Booth, David R., Broadley, Simon A., Brown, Matthew A., Foote, Simon J., Griffiths, Lyn R., Kilpatrick, Trevour 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., Griffiths, Lyn R, Hadler, Johanna, McMorran, Brendan J., Jensen, Cathy J., Johnson, Laura J., McCallum, Ruth, Merriman, Marilyn, Merriman, Tony, Pryce, Karena, 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 and Willoughby, Ernest (2009) Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nature Genetics, 41 7: 824-828. doi:10.1038/ng.396

Author Bahlo, Melanie
Booth, David R.
Broadley, Simon A.
Brown, Matthew A.
Foote, Simon J.
Griffiths, Lyn R.
Kilpatrick, Trevour 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.
Griffiths, Lyn R
Hadler, Johanna
McMorran, Brendan J.
Jensen, Cathy J.
Johnson, Laura J.
McCallum, Ruth
Merriman, Marilyn
Merriman, Tony
Pryce, Karena
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
Title Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2009-07
Year available 2009
Sub-type Article (original research)
DOI 10.1038/ng.396
Volume 41
Issue 7
Start page 824
End page 828
Total pages 5
Editor Myles Axton
Place of publication New York, NY, U.S.A.
Publisher Nature Publishing Company
Collection year 2010
Language eng
Subject C1
110706 Immunogenetics (incl. Genetic Immunology)
110903 Central Nervous System
110904 Neurology and Neuromuscular Diseases
920111 Nervous System and Disorders
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).
Keyword multiple sclerosis
Genome-wide Association
Susceptibility Loci
Q-Index Code C1
Q-Index Status Confirmed Code

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