The expanding genetic overlap between multiple sclerosis and type I diabetes

被引：128

作者：

Booth, David R. ^{[2
]}

Heard, Robert N. ^{[2
]}

Stewart, Graeme J. ^{[2
]}

Goris, An ^{[3
]}

Dobosi, Rita ^{[3
]}

Dubois, Benedicte ^{[3
]}

Lorentzen, Aslaug R. ^{[4
,5
]}

Celius, Elisabeth G. ^{[6
]}

Harbo, Hanne F. ^{[6
]}

Spurkland, Anne ^{[7
]}

Olsson, Tomas ^{[8
]}

Kockum, Ingrid ^{[8
]}

Link, Jenny ^{[8
]}

Hillert, Jan ^{[8
]}

Ban, Maria ^{[1
]}

Baker, Amie

Sawcer, Stephen

Compston, Alastair

Mihalova, Tania ^{[9
]}

Strange, Richard ^{[9
]}

Hawkins, Clive ^{[9
]}

Ingram, Gillian ^{[10
]}

Robertson, Neil P. ^{[10
]}

De Jager, Philip L. ^{[11
,12
]}

Hafler, David A. ^{[11
,12
]}

Barcellos, Lisa F. ^{[13
]}

Ivinson, Adrian J. ^{[14
]}

Pericak-Vance, Margaret ^{[16
]}

Oksenberg, Jorge R. ^{[15
]}

Hauser, Stephen L. ^{[15
]}

McCauley, Jacob L. ^{[17
]}

Sexton, David ^{[17
]}

Haines, Jonathan ^{[17
]}

机构：

[1] Univ Cambridge, Addenbrookes Hosp, Neurol Unit, Dept Clin Neurosci, Cambridge CB2 2QQ, England

[2] Univ Sydney, Westmead Hosp, Inst Immunol & Allergy Res, Westmead Millennium Inst, Westmead, NSW 2145, Australia

[3] Katholieke Univ Leuven, Sect Expt Neurol, B-3000 Louvain, Belgium

[4] Univ Oslo, Fac Div Ulleval, Dept Neurol, Univ Hosp, Oslo, Norway

[5] Univ Hosp, Rikshosp, Inst Immunol, N-0027 Oslo, Norway

[6] Ullevaal Univ Hosp, Dept Neurol, N-0407 Oslo, Norway

[7] Univ Oslo, Inst Basal Med Sci, N-0317 Oslo, Norway

[8] Karolinska Hosp, Dept Clin Neurosci, Ctr Mol Med CMM, S-17176 Stockholm, Sweden

[9] Keele Univ, Sch Med, Dept Neurol & Human Genom, Stoke On Trent ST4 7LN, Staffs, England

[10] Univ Wales Hosp, Dept Neurol, Cardiff CF14 4XW, S Glam, Wales

[11] Brigham & Womens Hosp, Ctr Neurol Dis, Div Mol Immunol, Boston, MA 02115 USA

[12] Harvard Univ, Sch Med, Partners Healthcare Ctr Genet & Genom, Boston, MA USA

[13] Univ Calif Berkeley, Berkeley, CA 94720 USA

[14] Harvard Univ, Sch Med, Harvard NeuroDiscovery Ctr, Boston, MA USA

[15] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA

[16] Univ Miami, Sch Med, Miami, FL USA

[17] Vanderbilt Univ, Med Ctr, Ctr Human Genet Res, Nashville, TN USA

来源：

GENES AND IMMUNITY | 2009年 / 10卷 / 01期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

INTERLEUKIN-7; RECEPTOR; AUTOIMMUNE-DISEASES; DIAGNOSTIC-CRITERIA; RISK; ASSOCIATION; POLYMORPHISMS; MHC2TA; SUSCEPTIBILITY; EXPANSION; ARTHRITIS;

D O I：

10.1038/gene.2008.83

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Familial clustering of autoimmune disease is well recognized and raises the possibility that some susceptibility genes may predispose to autoimmunity in general. In light of this observation, it might be expected that some of the variants of established relevance in one autoimmune disease may also be relevant in other related conditions. On the basis of this hypothesis, we tested seven single nucleotide polymorphisms (SNPs) that are known to be associated with type I diabetes in a large multiple sclerosis data set consisting of 2369 trio families, 5737 cases and 10 296 unrelated controls. Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 from the CLEC16A gene (P=1.6 x 10(-16)) and rs763361 from the CD226 gene (P = 5.4 x 10(-8)). These findings thereby identify two additional multiple sclerosis susceptibility genes and lend support to the notion of autoimmune susceptibility genes.

引用

页码：11 / 14

页数：4

共 26 条

[1] Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study [J].

Barcellos, Lisa F. ;

Kamdar, Brinda B. ;

Ramsay, Patricia P. ;

DeLoa, Cori ;

Lincoln, Robin R. ;

Caillier, Stacy ;

Schmidt, Silke ;

Haines, Jonathan L. ;

Pericak-Vance, Margaret A. ;

Oksenberg, Jorge R. ;

Hauser, Stephen L. .

LANCET NEUROLOGY, 2006, 5 (11) :924-931

[2] Cellular ligands of activating NK receptors [J].

Bottino, C ;

Castriconi, R ;

Moretta, L ;

Moretta, A .

TRENDS IN IMMUNOLOGY, 2005, 26 (04) :221-226

[3] Autoimmune disease in first-degree relatives of patients with multiple sclerosis - A UK survey [J].

Broadley, SA ;

Deans, J ;

Sawcer, SJ ;

Clayton, D ;

Compston, DAS .

BRAIN, 2000, 123 :1102-1111

[4] Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].

Burton, Paul R. ;

Clayton, David G. ;

Cardon, Lon R. ;

Craddock, Nick ;

Deloukas, Panos ;

Duncanson, Audrey ;

Kwiatkowski, Dominic P. ;

McCarthy, Mark I. ;

Ouwehand, Willem H. ;

Samani, Nilesh J. ;

Todd, John A. ;

Donnelly, Peter ;

Barrett, Jeffrey C. ;

Davison, Dan ;

Easton, Doug ;

Evans, David ;

Leung, Hin-Tak ;

Marchini, Jonathan L. ;

Morris, Andrew P. ;

Spencer, Chris C. A. ;

Tobin, Martin D. ;

Attwood, Antony P. ;

Boorman, James P. ;

Cant, Barbara ;

Everson, Ursula ;

Hussey, Judith M. ;

Jolley, Jennifer D. ;

Knight, Alexandra S. ;

Koch, Kerstin ;

Meech, Elizabeth ;

Nutland, Sarah ;

Prowse, Christopher V. ;

Stevens, Helen E. ;

Taylor, Niall C. ;

Walters, Graham R. ;

Walker, Neil M. ;

Watkins, Nicholas A. ;

Winzer, Thilo ;

Jones, Richard W. ;

McArdle, Wendy L. ;

Ring, Susan M. ;

Strachan, David P. ;

Pembrey, Marcus ;

Breen, Gerome ;

St Clair, David ;

Caesar, Sian ;

Gordon-Smith, Katherine ;

Jones, Lisa ;

Fraser, Christine ;

Green, Elain K. .

NATURE, 2007, 447 (7145) :661-678

[5] CD226 is specifically expressed on the surface of Th1 cells and regulates their expansion and effector functions [J].

Dardalhon, V ;

Schubart, AS ;

Reddy, J ;

Meyers, JH ;

Monney, L ;

Sabatos, CA ;

Ahuja, R ;

Nguyen, K ;

Freeman, GJ ;

Greenfield, EA ;

Sobel, RA ;

Kuchroo, VK .

JOURNAL OF IMMUNOLOGY, 2005, 175 (03) :1558-1565

[6] Dcir deficiency causes development of autoimmune diseases in mice due to excess expansion of dendritic cells [J].

Fujikado, Noriyuki ;

Saijo, Shinobu ;

Yonezawa, Tomo ;

Shimamori, Kazusuke ;

Ishii, Akina ;

Sugai, Sho ;

Kotaki, Hayato ;

Sudo, Katsuko ;

Nose, Masato ;

Iwakura, Yoichiro .

NATURE MEDICINE, 2008, 14 (02) :176-180

[7] Interleukin 7 receptor a chain (IL7R) shows allelic and functional association with multiple sclerosis [J].

Gregory, Simon G. ;

Schmidt, Silke ;

Seth, Puneet ;

Oksenberg, Jorge R. ;

Hart, John ;

Prokop, Angela ;

Caillier, Stacy J. ;

Ban, Maria ;

Goris, An ;

Barcellos, Lisa F. ;

Lincoln, Robin ;

McCauley, Jacob L. ;

Sawcer, Stephen J. ;

Compston, D. A. S. ;

Dubois, Benedicte ;

Hauser, Stephen L. ;

Garcia-Blanco, Mariano A. ;

Pericak-Vance, Margaret A. ;

Haines, Jonathan L. .

NATURE GENETICS, 2007, 39 (09) :1083-1091

[8] Risk alleles for multiple sclerosis identified by a genomewide study [J].

Hafler, David A. ;

Compston, Alastair ;

Sawcer, Stephen ;

Lander, Eric S. ;

Daly, Mark J. ;

De Jager, Philip L. ;

de Bakker, Paul I. W. ;

Gabriel, Stacey B. ;

Mirel, Daniel B. ;

Ivinson, Adrian J. ;

Pericak-Vance, Margaret A. ;

Gregory, Simon G. ;

Rioux, John D. ;

McCauley, Jacob L. ;

Haines, Jonathan L. ;

Barcellos, Lisa F. ;

Cree, Bruce ;

Oksenberg, Jorge R. ;

Hauser, Stephen L. .

NEW ENGLAND JOURNAL OF MEDICINE, 2007, 357 (09) :851-862

[9] Disease steps in multiple sclerosis: a longitudinal study comparing Disease Steps and EDSS to evaluate disease progression [J].

Hohol, MJ ;

Orav, EJ ;

Weiner, HL .

MULTIPLE SCLEROSIS, 1999, 5 (05) :349-354

[10] Newly identified genetic risk variants for celiac disease related to the immune response [J].

Hunt, Karen A. ;

Zhernakova, Alexandra ;

Turner, Graham ;

Heap, Graham A. R. ;

Franke, Lude ;

Bruinenberg, Marcel ;

Romanos, Jihane ;

Dinesen, Lotte C. ;

Ryan, Anthony W. ;

Panesar, Davinder ;

Gwilliam, Rhian ;

Takeuchi, Fumihiko ;

McLaren, William M. ;

Holmes, Geoffrey K. T. ;

Howdle, Peter D. ;

Walters, Julian R. F. ;

Sanders, David S. ;

Playford, Raymond J. ;

Trynka, Gosia ;

Mulder, Chris J. J. ;

Mearin, M. Luisa ;

Verbeek, Wieke H. M. ;

Trimble, Valerie ;

Stevens, Fiona M. ;

O'Morain, Colm ;

Kennedy, Nicholas P. ;

Kelleher, Dermot ;

Pennington, Daniel J. ;

Strachan, David P. ;

McArdle, Wendy L. ;

Mein, Charles A. ;

Wapenaar, Martin C. ;

Deloukas, Panos ;

McGinnis, Ralph ;

McManus, Ross ;

Wijmenga, Cisca ;

van Heel, David A. .

NATURE GENETICS, 2008, 40 (04) :395-402

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