From genome-wide association studies to disease mechanisms: celiac disease as a model for autoimmune diseases

被引：100

作者：

Kumar, Vinod ^{[1
]}

Wijmenga, Cisca ^{[1
]}

Withoff, Sebo ^{[1
]}

机构：

[1] Univ Groningen, Dept Genet, Univ Med Hosp Groningen, NL-9700 RB Groningen, Netherlands

来源：

SEMINARS IN IMMUNOPATHOLOGY | 2012年 / 34卷 / 04期

关键词：

Celiac disease; Autoimmune disease; Immune-related disease; Genome-wide association studies; GWAS; Pathway analysis; GENETIC-VARIANTS; RHEUMATOID-ARTHRITIS; MISSING HERITABILITY; MULTIPLE COMMON; SHARED GENETICS; RISK VARIANTS; EXPRESSION; REGION; MAP; PERSPECTIVE;

D O I：

10.1007/s00281-012-0312-1

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Celiac disease is characterized by a chronic inflammatory reaction in the intestine and is triggered by gluten, a constituent derived from grains which is present in the common daily diet in the Western world. Despite decades of research, the mechanisms behind celiac disease etiology are still not fully understood, although it is clear that both genetic and environmental factors are involved. To improve the understanding of the disease, the genetic component has been extensively studied by genome-wide association studies. These have uncovered a wealth of information that still needs further investigation to clarify its importance. In this review, we summarize and discuss the results of the genetic studies in celiac disease, focusing on the "non-HLA" genes. We also present novel approaches to identifying the causal variants in complex susceptibility loci and disease mechanisms.

引用

页码：567 / 580

页数：14

共 75 条

[1] Integration of Genetic and Immunological Insights into a Model of Celiac Disease Pathogenesis [J].

Abadie, Valerie ;

Sollid, Ludvig M. ;

Barreiro, Luis B. ;

Jabri, Bana .

ANNUAL REVIEW OF IMMUNOLOGY, VOL 29, 2011, 29 :493-525

[2] Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus [J].

Adrianto, Indra ;

Wen, Feng ;

Templeton, Amanda ;

Wiley, Graham ;

King, Jarrod B. ;

Lessard, Christopher J. ;

Bates, Jared S. ;

Hu, Yanqing ;

Kelly, Jennifer A. ;

Kaufman, Kenneth M. ;

Guthridge, Joel M. ;

Alarcon-Riquelme, Marta E. ;

Anaya, Juan-Manuel ;

Bae, Sang-Cheol ;

Bang, So-Young ;

Boackle, Susan A. ;

Brown, Elizabeth E. ;

Petri, Michelle A. ;

Gallant, Caroline ;

Ramsey-Goldman, Rosalind ;

Reveille, John D. ;

Vila, Luis M. ;

Criswell, Lindsey A. ;

Edberg, Jeffrey C. ;

Freedman, Barry I. ;

Gregersen, Peter K. ;

Gilkeson, Gary S. ;

Jacob, Chaim O. ;

James, Judith A. ;

Kamen, Diane L. ;

Kimberly, Robert P. ;

Martin, Javier ;

Merrill, Joan T. ;

Niewold, Timothy B. ;

Park, So-Yeon ;

Pons-Estel, Bernardo A. ;

Scofield, R. Hal ;

Stevens, Anne M. ;

Tsao, Betty P. ;

Vyse, Timothy J. ;

Langefeld, Carl D. ;

Harley, John B. ;

Moser, Kathy L. ;

Webb, Carol F. ;

Humphrey, Mary Beth ;

Montgomery, Courtney Gray ;

Gaffney, Patrick M. .

NATURE GENETICS, 2011, 43 (03) :253-U102

[3] The Biomolecular Interaction Network Database and related tools 2005 update [J].

Alfarano, C ;

Andrade, CE ;

Anthony, K ;

Bahroos, N ;

Bajec, M ;

Bantoft, K ;

Betel, D ;

Bobechko, B ;

Boutilier, K ;

Burgess, E ;

Buzadzija, K ;

Cavero, R ;

D'Abreo, C ;

Donaldson, I ;

Dorairajoo, D ;

Dumontier, MJ ;

Dumontier, MR ;

Earles, V ;

Farrall, R ;

Feldman, H ;

Garderman, E ;

Gong, Y ;

Gonzaga, R ;

Grytsan, V ;

Gryz, E ;

Gu, V ;

Haldorsen, E ;

Halupa, A ;

Haw, R ;

Hrvojic, A ;

Hurrell, L ;

Isserlin, R ;

Jack, F ;

Juma, F ;

Khan, A ;

Kon, T ;

Konopinsky, S ;

Le, V ;

Lee, E ;

Ling, S ;

Magidin, M ;

Moniakis, J ;

Montojo, J ;

Moore, S ;

Muskat, B ;

Ng, I ;

Paraiso, JP ;

Parker, B ;

Pintilie, G ;

Pirone, R .

NUCLEIC ACIDS RESEARCH, 2005, 33 :D418-D424

[4] Themis imposes new law and order on positive selection [J].

Allen, Paul M. .

NATURE IMMUNOLOGY, 2009, 10 (08) :805-806

[5] A haplotype map of the human genome [J].

Altshuler, D ;

Brooks, LD ;

Chakravarti, A ;

Collins, FS ;

Daly, MJ ;

Donnelly, P ;

Gibbs, RA ;

Belmont, JW ;

Boudreau, A ;

Leal, SM ;

Hardenbol, P ;

Pasternak, S ;

Wheeler, DA ;

Willis, TD ;

Yu, FL ;

Yang, HM ;

Zeng, CQ ;

Gao, Y ;

Hu, HR ;

Hu, WT ;

Li, CH ;

Lin, W ;

Liu, SQ ;

Pan, H ;

Tang, XL ;

Wang, J ;

Wang, W ;

Yu, J ;

Zhang, B ;

Zhang, QR ;

Zhao, HB ;

Zhao, H ;

Zhou, J ;

Gabriel, SB ;

Barry, R ;

Blumenstiel, B ;

Camargo, A ;

Defelice, M ;

Faggart, M ;

Goyette, M ;

Gupta, S ;

Moore, J ;

Nguyen, H ;

Onofrio, RC ;

Parkin, M ;

Roy, J ;

Stahl, E ;

Winchester, E ;

Ziaugra, L ;

Shen, Y .

NATURE, 2005, 437 (7063) :1299-1320

[6] A deletion mutation of the protein tyrosine phosphatase kappa (Ptprk) gene is responsible for T-helper immunodeficiency (thid) in the LEC rat [J].

Asano, Atsushi ;

Tsubomatsu, Kouta ;

Jung, Cha-Gyun ;

Sasaki, Nobuya ;

Agui, Takashi .

MAMMALIAN GENOME, 2007, 18 (11) :779-786

[7] Gene Ontology: tool for the unification of biology [J].

Ashburner, M ;

Ball, CA ;

Blake, JA ;

Botstein, D ;

Butler, H ;

Cherry, JM ;

Davis, AP ;

Dolinski, K ;

Dwight, SS ;

Eppig, JT ;

Harris, MA ;

Hill, DP ;

Issel-Tarver, L ;

Kasarskis, A ;

Lewis, S ;

Matese, JC ;

Richardson, JE ;

Ringwald, M ;

Rubin, GM ;

Sherlock, G .

NATURE GENETICS, 2000, 25 (01) :25-29

[8] A tutorial on statistical methods for population association studies [J].

Balding, David J. .

NATURE REVIEWS GENETICS, 2006, 7 (10) :781-791

[9] 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

[10] Gene networks: how to put the function in genomics [J].

Brazhnik, P ;

de la Fuente, A ;

Mendes, P .

TRENDS IN BIOTECHNOLOGY, 2002, 20 (11) :467-472

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