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

Bahlo, M; Booth, DR; Broadley, SA; Brown, MA; Foote, SJ; Kilpatrick, TJ; Lechner-Scott, J; Moscato, P; Perreau, VM; Rubio, JP; Scott, RJ; Stankovich, J; Stewart, GJ; Taylor, BV; Wiley, J; Clarke, G; Cox, MB; Csurhes, PA; Danoy, P; Drysdale, K; Field, J; Greer, JM; Griffiths, LR; Hadler, J; McMorran, BJ; Jensen, CJ; Johnson, LJ; McCallum, R; Merriman, M; Merriman, T; Pryce, K; Tajouri, L; Wilkins, EJ; Browning, BL; Browning, SR; Perera, D; Butzkueven, H; Carroll, WM; Chapman, C; Kermode, AG; Marriott, M; Mason, D; Heard, RN; Pender, MP; Slee, M; Tubridy, N; Willoughby, E

Author(s): Bahlo, M; Booth, DR; Broadley, SA; Brown, MA; Foote, SJ; Kilpatrick, TJ; Lechner-Scott, J; Moscato, P; Perreau, VM; Rubio, JP; Scott, RJ; Stankovich, J; Stewart, GJ; Taylor, BV; Wiley, J; Clarke, G; Cox, MB; Csurhes, PA; Danoy, P; Drysdale, K; Field, J; Greer, JM; Griffiths, LR; Hadler, J; McMorran, BJ; Jensen, CJ; Johnson, LJ; McCallum, R; Merriman, M; Merriman, T; Pryce, K; Tajouri, L; Wilkins, EJ; Browning, BL; Browning, SR; Perera, D; Butzkueven, H; Carroll, WM; Chapman, C; Kermode, AG; Marriott, M; Mason, D; Heard, RN; Pender, MP; Slee, M; Tubridy, N; Willoughby, E;
Details: Publication Year 2009-07,Volume 41,Issue #7,Page 824-U84
Journal Title: NATURE GENETICS
Publication Type: Journal Article
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).
Publisher: NATURE PUBLISHING GROUP
Keywords: RHEUMATOID-ARTHRITIS; DIAGNOSTIC-CRITERIA; CD40; ENCEPHALOMYELITIS; DIFFERENTIATION; POLYMORPHISM; EXPRESSION; GUIDELINES; INDUCTION; INFERENCE
Publisher's Version: https://doi.org/10.1038/ng.396
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2009-07-01 12:00:00