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

被引：393

作者：

Bahlo, Melanie ^{[2
]}

Booth, David R. ^{[3
]}

Broadley, Simon A. ^{[4
]}

Brown, Matthew A. ^{[5
,6
]}

Foote, Simon J. ^{[7
]}

Griffiths, Lyn R. ^{[8
]}

Kilpatrick, Trevor J. ^{[9
,10
]}

Lechner-Scott, Jeanette ^{[11
,12
]}

Moscato, Pablo ^{[12
,13
]}

Perreau, Victoria M. ^{[9
]}

Rubio, Justin P. ^{[1
]}

Scott, Rodney J. ^{[11
,13
]}

Stankovich, Jim ^{[7
]}

Stewart, Graeme J. ^{[3
]}

Taylor, Bruce V. ^{[7
]}

Wiley, James ^{[14
]}

Clarke, Glynnis ^{[15
]}

Cox, Mathew B. ^{[12
,13
]}

Csurhes, Peter A. ^{[16
]}

Danoy, Patrick

Drysdale, Karen ^{[7
]}

Field, Judith ^{[1
]}

Foote, Simon J. ^{[7
]}

Greer, Judith M. ^{[16
]}

Guru, Preethi ^{[7
]}

Hadler, Johanna ^{[5
]}

McMorran, Brendan J. ^{[7
]}

Jensen, Cathy J. ^{[1
]}

Johnson, Laura J. ^{[1
]}

McCallum, Ruth ^{[17
]}

Merriman, Marilyn ^{[17
]}

Merriman, Tony ^{[17
]}

Pryce, Karen ^{[5
]}

Tajouri, Lotfi ^{[8
]}

Wilkins, Ella J. ^{[1
]}

Browning, Brian L. ^{[18
]}

Browning, Sharon R. ^{[18
]}

Perera, Devindri

Butzkueven, Helmut ^{[1
]}

Carroll, William M. ^{[19
,20
]}

Chapman, Caron ^{[21
]}

Kermode, Allan G. ^{[19
,20
]}

Marriott, Mark

Mason, Deborah ^{[22
]}

Heard, Robert N.

Pender, Michael P. ^{[23
,24
]}

Slee, Mark ^{[25
]}

Tubridy, Niall ^{[26
]}

Willoughby, Ernest ^{[27
]}

机构：

[1] Univ Melbourne, Howard Florey Inst, Melbourne, Vic 3010, Australia

[2] Royal Melbourne Hosp, Walter & Eliza Hall Inst Med Res, Parkville, Vic 3050, Australia

[3] Westmead Millenium Inst, Westmead, NSW, Australia

[4] Griffith Univ, Sch Med, Nathan, Qld 4111, Australia

[5] Univ Queensland, Princess Alexandra Hosp, Diamantina Inst Canc Immunol & Metab Med, Brisbane, Qld, Australia

[6] Univ Oxford, Nuffield Dept Orthopaed Surg, Botnar Res Ctr, Oxford, England

[7] Univ Tasmania, Menzies Res Inst, Hobart, Tas, Australia

[8] Griffith Univ, Genom Res Ctr, Nathan, Qld 4111, Australia

[9] Univ Melbourne, Ctr Neurosci, Melbourne, Vic 3010, Australia

[10] Royal Melbourne Hosp, Parkville, Vic 3050, Australia

[11] John Hunter Hosp, Hunter New England Hlth Serv, Newcastle, NSW, Australia

[12] Hunter Med Res Inst, Newcastle, NSW, Australia

[13] Univ Newcastle, Ctr Bioinformat Biomarker Discovery & Informat Ba, Callaghan, NSW 2308, Australia

[14] Nepean Hosp, Dept Med, Penrith, NSW, Australia

[15] Univ Otago, Christchurch Sch Med & Hlth Sci, Christchurch, New Zealand

[16] Univ Queensland, UQ Ctr Clin Res, Brisbane, Qld 4072, Australia

[17] Univ Otago, Dept Biochem, Dunedin, New Zealand

[18] Univ Auckland, Dept Stat, Auckland 1, New Zealand

[19] Sir Charles Gairdner Hosp, Nedlands, WA, Australia

[20] Australian Neuromuscular Res Inst, Nedlands, WA, Australia

[21] Barwon Hlth, Geelong, Vic, Australia

[22] Canterbury Dist Hlth Board, Christchurch, New Zealand

[23] Univ Queensland, Sch Med, Brisbane, Qld 4072, Australia

[24] Royal Brisbane & Womens Hosp, Dept Neurol, Brisbane, Qld, Australia

[25] Flinders Univ S Australia, Dept Neurol, Sch Med, Adelaide, SA 5001, Australia

[26] St Vincents Univ Hosp, Dept Neurol, Dublin 4, Ireland

[27] Auckland Dist Hlth Board, Auckland, New Zealand

来源：

NATURE GENETICS | 2009年 / 41卷 / 07期

基金：

澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;

关键词：

RHEUMATOID-ARTHRITIS; DIAGNOSTIC-CRITERIA; CD40; POLYMORPHISM; GUIDELINES; INDUCTION; INFERENCE; ANTIBODY; MODELS; LIGAND;

D O I：

10.1038/ng.396

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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).

引用

页码：824 / U84

页数：7

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