Cytokine Gene Polymorphisms and Human Autoimmune Disease in the Era of Genome-Wide Association Studies

被引：50

作者：

Vandenbroeck, Koen ^{[1
,2
]}

机构：

[1] Univ Pais Vasco UPV EHU, Neurogenom Grp, Zamudio, Spain

[2] Basque Fdn Sci, IKERBASQUE, Bilbao, Spain

来源：

JOURNAL OF INTERFERON AND CYTOKINE RESEARCH | 2012年 / 32卷 / 04期

关键词：

INTERLEUKIN-12/23; MONOCLONAL-ANTIBODY; BIOLOGICALLY INACTIVE MOLECULE; INFLAMMATORY-BOWEL-DISEASE; COLITIS-RISK LOCI; MULTIPLE-SCLEROSIS; SUSCEPTIBILITY LOCI; RHEUMATOID-ARTHRITIS; BALANCING SELECTION; CROHNS-DISEASE; CELIAC-DISEASE;

D O I：

10.1089/jir.2011.0103

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Cytokine (receptor) genes have traditionally attracted great interest as plausible genetic risk factors for autoimmune disease. Since 2007, the implementation of genome-wide association studies has facilitated the robust identification of allelic variants in more than 35 cytokine loci as susceptibility factors for a wide variety of over 15 autoimmune disorders. In this review, we catalog the gene loci of interleukin, chemokine, and tumor necrosis factor receptor superfamily and ligands that have emerged as autoimmune risk factors. We examine recent progress made in the clarification of the functional mechanisms by which polymorphisms in the genes coding for interleukin-2 receptor alpha (IL2RA), IL7R, and IL23R may alter risk for autoimmune disease, and discuss opposite autoimmune risk alleles found, among others, at the IL10 locus.

引用

页码：139 / 151

页数：13

共 101 条

[1] Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 [J].

Anderson, Carl A. ;

Boucher, Gabrielle ;

Lees, Charlie W. ;

Franke, Andre ;

D'Amato, Mauro ;

Taylor, Kent D. ;

Lee, James C. ;

Goyette, Philippe ;

Imielinski, Marcin ;

Latiano, Anna ;

Lagace, Caroline ;

Scott, Regan ;

Amininejad, Leila ;

Bumpstead, Suzannah ;

Baidoo, Leonard ;

Baldassano, Robert N. ;

Barclay, Murray ;

Bayless, Theodore M. ;

Brand, Stephan ;

Buening, Carsten ;

Colombel, Jean-Frederic ;

Denson, Lee A. ;

De Vos, Martine ;

Dubinsky, Marla ;

Edwards, Cathryn ;

Ellinghaus, David ;

Fehrmann, Rudolf S. N. ;

Floyd, James A. B. ;

Florin, Timothy ;

Franchimont, Denis ;

Franke, Lude ;

Georges, Michel ;

Glas, Juergen ;

Glazer, Nicole L. ;

Guthery, Stephen L. ;

Haritunians, Talin ;

Hayward, Nicholas K. ;

Hugot, Jean-Pierre ;

Jobin, Gilles ;

Laukens, Debby ;

Lawrance, Ian ;

Lemann, Marc ;

Levine, Arie ;

Libioulle, Cecile ;

Louis, Edouard ;

McGovern, Dermot P. ;

Milla, Monica ;

Montgomery, Grant W. ;

Morley, Katherine I. ;

Mowat, Craig .

NATURE GENETICS, 2011, 43 (03) :246-U94

[2] Phenotypic and functional features of human Th17 cells [J].

Annunziato, Francesco ;

Cosmi, Lorenzo ;

Santarlasci, Veronica ;

Maggi, Laura ;

Liotta, Francesco ;

Mazzinghi, Benedetta ;

Parente, Eliana ;

Fili, Lucia ;

Ferri, Simona ;

Frosali, Francesca ;

Giudici, Francesco ;

Romagnani, Paola ;

Parronchi, Paola ;

Tonelli, Francesco ;

Maggi, Enrico ;

Romagnani, Sergio .

JOURNAL OF EXPERIMENTAL MEDICINE, 2007, 204 (08) :1849-1861

[3] The genetics of autoimmune diseases: a networked perspective [J].

Baranzini, Sergio E. .

CURRENT OPINION IN IMMUNOLOGY, 2009, 21 (06) :596-605

[4] From evolutionary genetics to human immunology: how selection shapes host defence genes [J].

Barreiro, Luis B. ;

Quintana-Murci, Lluis .

NATURE REVIEWS GENETICS, 2010, 11 (01) :17-30

[5] Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease [J].

Barrett, Jeffrey C. ;

Hansoul, Sarah ;

Nicolae, Dan L. ;

Cho, Judy H. ;

Duerr, Richard H. ;

Rioux, John D. ;

Brant, Steven R. ;

Silverberg, Mark S. ;

Taylor, Kent D. ;

Barmada, M. Michael ;

Bitton, Alain ;

Dassopoulos, Themistocles ;

Datta, Lisa Wu ;

Green, Todd ;

Griffiths, Anne M. ;

Kistner, Emily O. ;

Murtha, Michael T. ;

Regueiro, Miguel D. ;

Rotter, Jerome I. ;

Schumm, L. Philip ;

Steinhart, A. Hillary ;

Targan, Stephan R. ;

Xavier, Ramnik J. ;

Libioulle, Cecile ;

Sandor, Cynthia ;

Lathrop, Mark ;

Belaiche, Jacques ;

Dewit, Olivier ;

Gut, Ivo ;

Heath, Simon ;

Laukens, Debby ;

Mni, Myriam ;

Rutgeerts, Paul ;

Van Gossum, Andre ;

Zelenika, Diana ;

Franchimont, Denis ;

Hugot, Jean-Pierre ;

de Vos, Martine ;

Vermeire, Severine ;

Louis, Edouard ;

Cardon, Lon R. ;

Anderson, Carl A. ;

Drummond, Hazel ;

Nimmo, Elaine ;

Ahmad, Tariq ;

Prescott, Natalie J. ;

Onnie, Clive M. ;

Fisher, Sheila A. ;

Marchini, Jonathan ;

Ghori, Jilur .

NATURE GENETICS, 2008, 40 (08) :955-962

[6] Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes [J].

Barrett, Jeffrey C. ;

Clayton, David G. ;

Concannon, Patrick ;

Akolkar, Beena ;

Cooper, Jason D. ;

Erlich, Henry A. ;

Julier, Cecile ;

Morahan, Grant ;

Nerup, Jorn ;

Nierras, Concepcion ;

Plagnol, Vincent ;

Pociot, Flemming ;

Schuilenburg, Helen ;

Smyth, Deborah J. ;

Stevens, Helen ;

Todd, John A. ;

Walker, Neil M. ;

Rich, Stephen S. .

NATURE GENETICS, 2009, 41 (06) :703-707

[7] TH17 cytokines in autoimmune neuro-inflammation [J].

Becher, Burkhard ;

Segal, Benjamin M. .

CURRENT OPINION IN IMMUNOLOGY, 2011, 23 (06) :707-712

[8] The autoimmune disease-associated IL12B and IL23R polymorphisms in multiple sclerosis [J].

Begovich, Ann B. ;

Chang, Monica ;

Caillier, Stacy J. ;

Lew, David ;

Catanese, Joseph J. ;

Wang, Joanne ;

Hauser, Stephen L. ;

Oksenberg, Jorge R. .

HUMAN IMMUNOLOGY, 2007, 68 (11) :934-937

[9] Induction and effector functions of TH17 cells [J].

Bettelli, Estelle ;

Korn, Thomas ;

Oukka, Mohamed ;

Kuchroo, Vijay K. .

NATURE, 2008, 453 (7198) :1051-1057

[10] Crohn's disease: Th1, Th17 or both? The change of a paradigm: new immunological and genetic insights implicate Th17 cells in the pathogenesis of Crohn's disease [J].

Brand, S. .

GUT, 2009, 58 (08) :1152-1167

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