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

Bahlo, M., Booth, D.R., Broadley, S.A., Brown, M.A., Foote, S.J., Griffiths, L.R., Kilpatrick, T.J., Lechner-Scott, J., Moscato, P., Perreau, V.M., Rubio, J.P., Scott, R.J., Stankovich, J., Stewart, G.J., Taylor, B.V., Wiley, J., Brown, M.A., Booth, D.R., Clarke, G., Cox, M.B., Csurhes, P.A., Danoy, P., Drysdale, K., Field, J., Foote, S.J., Greer, J.M., Griffiths, L.R., Guru, P., Hadler, J., McMorran, B.J., Jensen, C.J., Johnson, L.J., McCallum, R., Merriman, M., Merriman, T., Pryce, K., Scott, R.J., Stewart, G.J., Tajouri, L., Wilkins, E.J., Rubio, J.P., Bahlo, M., Brown, M.A., Browning, B.L., Browning, S.R., Perera, D., Rubio, J.P., Stankovich, J., Broadley, S., Butzkueven, H., Carroll, W.M., Chapman, C., Kermode, A.G., Marriott, M., Mason, D., Heard, R.N., Pender, M.P., Slee, M., Tubridy, N., Lechner-Scott, J., Taylor, B.V., Willoughby, E. and Kilpatrick, T.J. (2009) Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nature Genetics, 41 (7). pp. 824-828.

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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 times 10-11; rs10876994, P = 2.7 times 10-10; rs12368653, P = 1.0 times 10-7) and upstream of CD40 on chromosome 20q13 (rs6074022, P = 1.3 times 10-7; rs1569723, P = 2.9 times 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 times 10-184; CD58, P = 9.6 times 10-8; EVI5-RPL5, P = 2.5 times 10-6; IL2RA, P = 7.4 times 10-6; CLEC16A, P = 1.1 times 10-4; IL7R, P = 1.3 times 10-3; TYK2, P = 3.5 times 10-3) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001).

Item Type: Journal Article
Publisher: Nature Publishing Group
Copyright: © 2015 Macmillan Publishers Limited
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