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

共 50 条

[21] Genome-wide association study identifies three new melanoma susceptibility loci
Barrett, Jennifer H.
Iles, Mark M.
Harland, Mark
Taylor, John C.
Aitken, Joanne F.
Andresen, Per Arne
Akslen, Lars A.
Armstrong, Bruce K.
Avril, Marie-Francoise
Azizi, Esther
Bakker, Bert
Bergman, Wilma
Bianchi-Scarra, Giovanna
Bressac-de Paillerets, Brigitte
Calista, Donato
Cannon-Albright, Lisa A.
Corda, Eve
Cust, Anne E.
Debniak, Tadeusz
Duffy, David
Dunning, Alison M.
Easton, Douglas F.
Friedman, Eitan
Galan, Pilar
Ghiorzo, Paola
Giles, Graham G.
Hansson, Johan
Hocevar, Marko
Hoeiom, Veronica
Hopper, John L.
Ingvar, Christian
Janssen, Bart
Jenkins, Mark A.
Joensson, Goeran
Kefford, Richard F.
Landi, Giorgio
Landi, Maria Teresa
Lang, Julie
Lubinski, Jan
Mackie, Rona
Malvehy, Josep
Martin, Nicholas G.
Molven, Anders
Montgomery, Grant W.
van Nieuwpoort, Frans A.
Novakovic, Srdjan
Olsson, Hakan
Pastorino, Lorenza
Puig, Susana
Puig-Butille, Joan Anton
NATURE GENETICS, 2011, 43 (11) : 1108 - U98
[22] Genome-wide association study identifies new prostate cancer susceptibility loci
Schumacher, Fredrick R.
Berndt, Sonja I.
Siddig, Afshan
Jacobs, Kevin
Wang, Zhaoming
Lindstrom, Sara
Stevens, Victoria L.
Chen, Constance
Mondul, Alison M.
Travis, Ruth C.
Straml, Daniel O.
Eeles, Rosalind A.
Easton, Douglas F.
Giles, Graham
Severi, Gianluca
Gronberg, Henrik
Wiklund, Fredrik
Allen, Naomi E.
Andriolell, Gerald L.
Barricarte, Aurelio
Boeing, Heiner
de Mesquita, H. Bas Bueno
Crawford, E. David
Divers, W. Ryan
Gonzalez, Carlos A.
Garziano, J. Michael
Giovannucci, Edward L.
Johansson, Mattias
Le Marchand, Loic
Ma, Jing
Sier, Sabina
Stattin, Par
Stampfer, Meir J.
Tjonneland, Anne
Vineis, Paolo
Virtamo, Jarmo
Voge, Ulla
Weinstein, Stephanie J.
Yeager, Meredith
Thun, Michael J.
Kolonel, Laurence N.
Henderson, Brian E.
Albanes, Demetrius
Hayes, Richard B.
Feigelson, Heather Spencer
Riboli, Elio
Hunter, David J.
Chanock, Stephen J.
Haimanl, Christopher A.
Kraft, Peter
CANCER RESEARCH, 2011, 71
[23] Genome-wide association study identifies three new melanoma susceptibility loci
Meera Swami
Nature Medicine, 2011, 17 (11) : 1357 - 1357
[24] Genome-wide association study identifies three new melanoma susceptibility loci
Jennifer H Barrett
Mark M Iles
Mark Harland
John C Taylor
Joanne F Aitken
Per Arne Andresen
Lars A Akslen
Bruce K Armstrong
Marie-Francoise Avril
Esther Azizi
Bert Bakker
Wilma Bergman
Giovanna Bianchi-Scarrà
Brigitte Bressac-de Paillerets
Donato Calista
Lisa A Cannon-Albright
Eve Corda
Anne E Cust
Tadeusz Dębniak
David Duffy
Alison M Dunning
Douglas F Easton
Eitan Friedman
Pilar Galan
Paola Ghiorzo
Graham G Giles
Johan Hansson
Marko Hocevar
Veronica Höiom
John L Hopper
Christian Ingvar
Bart Janssen
Mark A Jenkins
Göran Jönsson
Richard F Kefford
Giorgio Landi
Maria Teresa Landi
Julie Lang
Jan Lubiński
Rona Mackie
Josep Malvehy
Nicholas G Martin
Anders Molven
Grant W Montgomery
Frans A van Nieuwpoort
Srdjan Novakovic
Håkan Olsson
Lorenza Pastorino
Susana Puig
Joan Anton Puig-Butille
Nature Genetics, 2011, 43 : 1108 - 1113
[25] Genome-wide association identifies multiple ulcerative colitis susceptibility loci
Dermot P B McGovern
Agnès Gardet
Leif Törkvist
Philippe Goyette
Jonah Essers
Kent D Taylor
Benjamin M Neale
Rick T H Ong
Caroline Lagacé
Chun Li
Todd Green
Christine R Stevens
Claudine Beauchamp
Phillip R Fleshner
Marie Carlson
Mauro D'Amato
Jonas Halfvarson
Martin L Hibberd
Mikael Lördal
Leonid Padyukov
Angelo Andriulli
Elisabetta Colombo
Anna Latiano
Orazio Palmieri
Edmond-Jean Bernard
Colette Deslandres
Daan W Hommes
Dirk J de Jong
Pieter C Stokkers
Rinse K Weersma
Yashoda Sharma
Mark S Silverberg
Judy H Cho
Jing Wu
Kathryn Roeder
Steven R Brant
L Phillip Schumm
Richard H Duerr
Marla C Dubinsky
Nicole L Glazer
Talin Haritunians
Andy Ippoliti
Gil Y Melmed
David S Siscovick
Eric A Vasiliauskas
Stephan R Targan
Vito Annese
Cisca Wijmenga
Sven Pettersson
Jerome I Rotter
Nature Genetics, 2010, 42 : 332 - 337
[26] Genome-wide association identifies multiple collagenous colitis susceptibility loci
Roda, G.
Torres, J.
Hu, J.
Hao, K.
Zhongyang, Z.
Chen, A.
Petras, R.
Pardi, D.
Juga, A.
Levi, G.
Cao, W.
Rieder, F.
Gordon, I.
Harpaz, N.
Cho, J.
Peter, I.
Colombel, J-F
JOURNAL OF CROHNS & COLITIS, 2015, 9 : S70 - S70
[27] Genome-Wide Association Identifies Multiple Collagenous Colitis Susceptibility Loci
Roda, Giulia
Torres, Joana
Hu, Jianzhong
Hao, Ke
Zhang, Zhongyang
Chen, Anli
Petras, Robert E.
Pardi, Darrell S.
Iuga, Alina C.
Levi, Gabriel
Cao, Wenqing
Rieder, Florian
Gordon, Ilyssa O.
Harpaz, Noam
Cho, Judy H.
Peter, Inga
Colombel, Jean-Frederic
GASTROENTEROLOGY, 2015, 148 (04) : S875 - S875
[28] Genome-wide association identifies multiple ulcerative colitis susceptibility loci
McGovern, Dermot P. B.
Gardet, Agnes
Torkvist, Leif
Goyette, Philippe
Essers, Jonah
Taylor, Kent D.
Neale, Benjamin M.
Ong, Rick T. H.
Lagace, Caroline
Li, Chun
Green, Todd
Stevens, Christine R.
Beauchamp, Claudine
Fleshner, Phillip R.
Carlson, Marie
D'Amato, Mauro
Halfvarson, Jonas
Hibberd, Martin L.
Lordal, Mikael
Padyukov, Leonid
Andriulli, Angelo
Colombo, Elisabetta
Latiano, Anna
Palmieri, Orazio
Bernard, Edmond-Jean
Deslandres, Colette
Hommes, Daan W.
de Jong, Dirk J.
Stokkers, Pieter C.
Weersma, Rinse K.
Sharma, Yashoda
Silverberg, Mark S.
Cho, Judy H.
Wu, Jing
Roeder, Kathryn
Brant, Steven R.
Schumm, L. Phillip
Duerr, Richard H.
Dubinsky, Marla C.
Glazer, Nicole L.
Haritunians, Talin
Ippoliti, Andy
Melmed, Gil Y.
Siscovick, David S.
Vasiliauskas, Eric A.
Targan, Stephan R.
Annese, Vito
Wijmenga, Cisca
Pettersson, Sven
Rotter, Jerome I.
NATURE GENETICS, 2010, 42 (04) : 332 - U88
[29] Erratum: Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis
George F Mells
James A B Floyd
Katherine I Morley
Heather J Cordell
Christopher S Franklin
So-Youn Shin
Michael A Heneghan
James M Neuberger
Peter T Donaldson
Darren B Day
Samantha J Ducker
Agnes W Muriithi
Elizabeth F Wheater
Christopher J Hammond
Muhammad F Dawwas
David E Jones
Leena Peltonen
Graeme J Alexander
Richard N Sandford
Carl A Anderson
Nature Genetics, 2011, 43 : 1164 - 1164
[30] A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia
Helen E Speedy
Maria Chiara Di Bernardo
Georgina P Sava
Martin J S Dyer
Amy Holroyd
Yufei Wang
Nicola J Sunter
Larry Mansouri
Gunnar Juliusson
Karin E Smedby
Göran Roos
Sandrine Jayne
Aneela Majid
Claire Dearden
Andrew G Hall
Tryfonia Mainou-Fowler
Graham H Jackson
Geoffrey Summerfield
Robert J Harris
Andrew R Pettitt
David J Allsup
James R Bailey
Guy Pratt
Chris Pepper
Chris Fegan
Richard Rosenquist
Daniel Catovsky
James M Allan
Richard S Houlston
Nature Genetics, 2014, 46 : 56 - 60

← 1 2 3 4 5 →