Melbourne Medical School Collected Works - Research Publications

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Start date: 2009 × End date: 2009 × Author: Bahlo, Melanie ×

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    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 ; Griffiths, LR ; 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 ; Foote, SJ ; Greer, JM ; Guru, P ; 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 (NATURE PUBLISHING GROUP, 2009-07)
    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).