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

被引：398

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：

英国医学研究理事会; 澳大利亚国家健康与医学研究理事会;

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

共 50 条

[31] A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia
Speedy, Helen E.
Di Bernardo, Maria Chiara
Sava, Georgina P.
Dyer, Martin J. S.
Holroyd, Amy
Wang, Yufei
Sunter, Nicola J.
Mansouri, Larry
Juliusson, Gunnar
Smedby, Karin E.
Roos, Groan
Jayne, Sandrine
Majid, Aneela
Dearden, Claire
Hall, Andrew G.
Mainou-Fowler, Tryfonia
Jackson, Graham H.
Summerfield, Geoffrey
Harris, Robert J.
Pettitt, Andrew R.
Allsup, David J.
Bailey, James R.
Pratt, Guy
Pepper, Chris
Fegan, Chris
Rosenquist, Richard
Catovsky, Daniel
Allan, James M.
Houlston, Richard S.
NATURE GENETICS, 2014, 46 (01) : 56 - +
[32] GENOME-WIDE ASSOCIATION STUDY IDENTIFIES MULTIPLE NEW SUSCEPTIBILITY LOCI FOR PROSTATE CANCER IN JAPANESE POPULATION
Takata, Ryo
Akamatsu, Shusuke
Nakagawa, Hidewaki
Kubo, Michiaki
Tsunoda, Tatsuhiko
Inazawa, Johji
Kamatani, Naoyuki
Ogawa, Osamu
Nakamura, Yusuke
Fujioka, Tomoaki
JOURNAL OF UROLOGY, 2011, 185 (04): : E61 - E61
[33] Erratum: Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis
Tasha E Fingerlin
Elissa Murphy
Weiming Zhang
Anna L Peljto
Kevin K Brown
Mark P Steele
James E Loyd
Gregory P Cosgrove
David Lynch
Steve Groshong
Harold R Collard
Paul J Wolters
Williamson Z Bradford
Karl Kossen
Scott D Seiwert
Roland M du Bois
Christine Kim Garcia
Megan S Devine
Gunnar Gudmundsson
Helgi J Isaksson
Naftali Kaminski
Yingze Zhang
Kevin F Gibson
Lisa H Lancaster
Joy D Cogan
Wendi R Mason
Toby M Maher
Philip L Molyneaux
Athol U Wells
Miriam F Moffatt
Moises Selman
Annie Pardo
Dong Soon Kim
James D Crapo
Barry J Make
Elizabeth A Regan
Dinesha S Walek
Jerry J Daniel
Yoichiro Kamatani
Diana Zelenika
Keith Smith
David McKean
Brent S Pedersen
Janet Talbert
Raven N Kidd
Cheryl R Markin
Kenneth B Beckman
Mark Lathrop
Marvin I Schwarz
David A Schwartz
Nature Genetics, 2013, 45 : 1409 - 1409
[34] Genome-wide Association Study Identifies New Susceptibility Loci for Posttraumatic Stress Disorder
Xie, Pingxing
Kranzler, Henry R.
Yang, Can
Zhao, Hongyu
Farrer, Lindsay A.
Gelernter, Joel
BIOLOGICAL PSYCHIATRY, 2013, 74 (09) : 656 - 663
[35] Genome-wide association study identifies five new breast cancer susceptibility loci
Clare Turnbull
Shahana Ahmed
Jonathan Morrison
David Pernet
Anthony Renwick
Mel Maranian
Sheila Seal
Maya Ghoussaini
Sarah Hines
Catherine S Healey
Deborah Hughes
Margaret Warren-Perry
William Tapper
Diana Eccles
D Gareth Evans
Maartje Hooning
Mieke Schutte
Ans van den Ouweland
Richard Houlston
Gillian Ross
Cordelia Langford
Paul D P Pharoah
Michael R Stratton
Alison M Dunning
Nazneen Rahman
Douglas F Easton
Nature Genetics, 2010, 42 : 504 - 507
[36] Genome-wide association study identifies five susceptibility loci for glioma
Sanjay Shete
Fay J Hosking
Lindsay B Robertson
Sara E Dobbins
Marc Sanson
Beatrice Malmer
Matthias Simon
Yannick Marie
Blandine Boisselier
Jean-Yves Delattre
Khe Hoang-Xuan
Soufiane El Hallani
Ahmed Idbaih
Diana Zelenika
Ulrika Andersson
Roger Henriksson
A Tommy Bergenheim
Maria Feychting
Stefan Lönn
Anders Ahlbom
Johannes Schramm
Michael Linnebank
Kari Hemminki
Rajiv Kumar
Sarah J Hepworth
Amy Price
Georgina Armstrong
Yanhong Liu
Xiangjun Gu
Robert Yu
Ching Lau
Minouk Schoemaker
Kenneth Muir
Anthony Swerdlow
Mark Lathrop
Melissa Bondy
Richard S Houlston
Nature Genetics, 2009, 41 : 899 - 904
[37] Genome-wide association study identifies two susceptibility loci for osteosarcoma
Savage, Sharon A.
Mirabello, Lisa
Wang, Zhaoming
Gastier-Foster, Julie M.
Gorlick, Richard
Khanna, Chand
Flanagan, Adrienne M.
Tirabosco, Roberto
Andrulis, Irene L.
Wunder, Jay S.
Gokgoz, Nalan
Patino-Garcia, Ana
Sierrasesumaga, Luis
Lecanda, Fernando
Kurucu, Nilgun
Ilhan, Inci Ergurhan
Sari, Neriman
Serra, Massimo
Hattinger, Claudia
Picci, Piero
Spector, Logan G.
Barkauskas, Donald A.
Marina, Neyssa
Caminada de Toledo, Silvia Regina
Petrilli, Antonio S.
Amary, Maria Fernanda
Halai, Dina
Thomas, David M.
Douglass, Chester
Meltzer, Paul S.
Jacobs, Kevin
Chung, Charles C.
Berndt, Sonja I.
Purdue, Mark P.
Caporaso, Neil E.
Tucker, Margaret
Rothman, Nathaniel
Landi, Maria Teresa
Silverman, Debra T.
Kraft, Peter
Hunter, David J.
Malats, Nuria
Kogevinas, Manolis
Wacholder, Sholom
Troisi, Rebecca
Helman, Lee
Fraumeni, Joseph F., Jr.
Yeager, Meredith
Hoover, Robert N.
Chanock, Stephen J.
NATURE GENETICS, 2013, 45 (07) : 799 - 803
[38] Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus
Kunz, Manfred
Koenig, Inke R.
Schillert, Arne
Kruppa, Jochen
Ziegler, Andreas
Grallert, Harald
Mueller-Nurasyid, Martina
Lieb, Wolfgang
Franke, Andre
Ranki, Annamari
Panelius, Jaana
Koskenmies, Sari
Hasan, Taina
Kere, Juha
Roenn, Ann-Charlotte
Simon, Jan C.
Schmidt, Enno
Wenzel, Joerg
Tueting, Thomas
Landsberg, Jennifer
Zeller, Tanja
Blankenberg, Stefan
Glaeser, Regine
Patsinakidis, Nikolaos
Kuhn, Annegret
Ibrahim, Saleh M.
EXPERIMENTAL DERMATOLOGY, 2015, 24 (07) : 510 - 515
[39] A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci
Jin-Xin Bei
Yi Li
Wei-Hua Jia
Bing-Jian Feng
Gangqiao Zhou
Li-Zhen Chen
Qi-Sheng Feng
Hui-Qi Low
Hongxing Zhang
Fuchu He
E Shyong Tai
Tiebang Kang
Edison T Liu
Jianjun Liu
Yi-Xin Zeng
Nature Genetics, 2010, 42 : 599 - 603
[40] Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus
Kunz, M.
Koenig, I. R.
Ziegler, A.
Ranki, A.
Koskenmies, S.
Ronn, A.
Simon, J. C.
Wenzel, J.
Landsberg, J.
Zeller, T.
Glaeser, R.
Kuhn, A.
Ibrahim, S.
EXPERIMENTAL DERMATOLOGY, 2016, 25 (03) : E18 - E18

← 1 2 3 4 5 →